Republic of the Philippines UNIVERSITY OF EASTERN PHILIPPINES University Town, Catarman, Northern Samar COLLEGE OF EDUCATION Secondary Teacher Education Department 2nd Semester SY: 2020-2021 Module in Major 7a: GENETICS This module is prepared by: Christine M. Adlawan, LLB, MPA STEd Faculty Module in GENETICS Module Prof. Christine M. Adlawan 1 Genetics: The Science of Heredity OVERVIEW It is a common observation that seeds of mango trees germinate to grow into mango plants, and dogs give birth to puppies only and not into the young ones of any other animal. Humans give birth to human beings. The tendency of offsprings to inherit parental characteristics is termed as ‗heredity‘ and the study of science of heredity and the reasons governing the variation between the parents and their offsprings is called ‗Genetics‘. Genetics seeks to answer questions like why two offspring of same parents look different, why some people have dark, and others have fair complexion. In other words, why is there variation among individuals of the same kind? This module deals with genetics and the reasons behind the variation among individuals of the same species. It also includes diagnostic techniques to find out the bases for types of sex determination, inheritance of blood groups in humans, hereditary disorders and gives an insight of the human genome. LEARNING PLAN At the completion of this lesson, you should be able to: 1. define the terms heredity and genetics; 2. discuss the history of genetics; 3. explain the scope of genetics; 2 Module in GENETICS Prof. Christine M. Adlawan 4. determine the application of genetics studies to life and to the fields of science; and 5. identify some important terminologies used in the study of genetics. ACTIVITY Traits of Our Class This activity is designed to help students differentiate between characteristics that are inherited versus characteristics that are not. It also allows students to see the prevalence of certain traits by observing those traits in their classmates or friends. Instruction: Identify whether the series of traits in the table are inherited or not inherited. Put a check (⁄) mark if it is inherited, and a cross (x) mark if it is not inherited. Give your own explanation or reason why such trait is inherited or not. Ask any of your classmates if he/she has any of the inheritable traits listed in the table. If the classmate has some of the traits, write the classmate's name next to your explanation. You may write as many names as you can as long as they have the inheritable traits. Series of Traits Inherited Not Inherited Your Explanation Name of Classmate Hair color Shirt color Height Weight Health Dry skin 3 Module in GENETICS Prof. Christine M. Adlawan Hair length Skin color Eye shape Can roll his or her tongue Has detached earlobes Has a widow's peak Has a hitchhiker's thumb Has dimples Has freckles Has a widow's peak ANALYSIS Answer the following questions briefly: 1. Which traits were hard to find from among your classmates? ___________________________________________________________ ___________________________________________________________ ________________________________________________________ 2. Can you compare the percentage of the general population and classmate/s that has each trait? Write them below. ___________________________________________________________ ___________________________________________________________ 4 Module in GENETICS Prof. Christine M. Adlawan ___________________________________________________________ ________________________________________________________ 3. Draw a conclusion from the above activity? Write them below. ___________________________________________________________ ___________________________________________________________ ___________________________________________________________ ________________________________________________________ ABSTRACTION A. What is Heredity and Genetics? “Genetics is a field of science that includes the study of inheritance and genetic variations by investigating the DNA, genes, genome, chromosome and other components of it.” It also pertains to ―the study of structure and function of DNA, genes, chromosomes and related alterations‖. 5 Module in GENETICS Prof. Christine M. Adlawan The term ―Genetics‖ was coined by William Bateson is 1905. The term was derived from the Greek word ―genetikos‖ and ―genesis‖. Genetikos means generative and genesis means ―origin‖. Heredity on the other hand, refers to the genetic heritage passed down by our biological parents. It‘s the reason why we look like them! More specifically, it is the transmission of traits from one generation to the next. These traits can be physical, such as eye color, blood type or a disease, or behavioral. For example, the hygienic behavior of honeybees that drives them to remove sick larvae from the nest is an inherited behavior. Hereditary traits are determined by genes, and a single gene can have several variants called alleles. There are two copies of each gene in our cells (with the exception of genes located on sex chromosomes). One of the copies comes from the sperm, the other from the egg. In an individual, these two copies (or alleles) are not necessarily identical. If the two copies of a gene are identical, we say that the individual is homozygous for that gene. If the two copies are different, the gene is heterozygous. The alleles of the same gene can have a dominant or recessive relationship with one another. If both alleles are different (heterozygous) and at least one of these two alleles is dominant, it is the dominant one that will be expressed (i.e., that we will observe as a trait in an individual). Conversely, a recessive allele (non-dominant) will not be expressed in an individual if both 6 Module in GENETICS Prof. Christine M. Adlawan parents pass down the same allele (homozygote). As a result, even if a recessive allele is present in a genotype (the genetic constitution of an individual); it will not be observable in the phenotype (the set of observable traits of an individual) if the other copy of the gene is a dominant allele. During reproduction, the genes of biological parents combine to form a new unique individual. This shuffling of genes is the reason all of us are different. B. The beginnings of Genetics The history of genetics dates from the classical era with contributions by Pythagoras, Hippocrates, Aristotle, Epicurus, and others. Modern genetics began with the work of the Augustinian friar Gregor Johann Mendel. His work on pea plants, published in 1866, established the theory of Mendelian inheritance. The year 1900 marked the "rediscovery of Mendel" by Hugo de Vries, Carl Correns and Erich von Tschermak, and by 1915 the basic principles of Mendelian genetics had been studied in a wide variety of organisms — most notably the fruit fly Drosophila melanogaster. Led by Thomas Hunt Morgan and his fellow "drosophilists", geneticists developed the Mendelian model, which was widely accepted by 1925. Alongside experimental work, mathematicians developed the statistical framework of population genetics, bringing genetic explanations into the study of evolution. With the basic patterns of genetic inheritance established, many biologists turned to investigations of the physical nature of the gene. In the 7 Module in GENETICS Prof. Christine M. Adlawan 1940s and early 1950s, experiments pointed to DNA as the portion of chromosomes (and perhaps other nucleoproteins) that held genes. A focus on new model organisms such as viruses and bacteria, along with the discovery of the double helical structure of DNA in 1953, marked the transition to the era of molecular genetics. In the following years, chemists developed techniques for sequencing both nucleic acids and proteins, while many others worked out the relationship between these two forms of biological molecules and discovered the genetic code. The regulation of gene expression became a central issue in the 1960s; by the 1970s gene expression could be controlled and manipulated through genetic engineering. In the last decades of the 20th century, many biologists focused on large-scale genetics projects, such as sequencing entire genomes. Ancient Theories The most influential early theories of heredity were that of Hippocrates and Aristotle. Hippocrates' theory was similar to Darwin's later ideas on pangenesis, involving heredity material that collects from throughout the body. Aristotle suggested instead that the form-giving principle of an organism was transmitted through semen (which he considered to be a purified form of blood) and the mother's menstrual blood, which interacted in the womb to direct an organism's early development. Ancient theories of pangenesis and blood in heredity Although scientific evidence for patterns of genetic inheritance did not appear until Mendel‘s work, history shows that humankind must have been interested in heredity long before the dawn of civilization. Curiosity must first have been based on human family resemblances, such as similarity in body structure, voice, gait, and gestures. Such notions were instrumental in the establishment of family and royal dynasties. Early nomadic tribes were 8 Module in GENETICS Prof. Christine M. Adlawan interested in the qualities of the animals that they herded and domesticated and, undoubtedly, bred selectively. The first human settlements that practiced farming appear to have selected crop plants with favorable qualities. Ancient tomb paintings show racehorse breeding pedigrees containing clear depictions of the inheritance of several distinct physical traits in the horses. Despite this interest, the first recorded speculations on heredity did not exist until the time of the ancient Greeks; some aspects of their ideas are still considered relevant today. Hippocrates (c. 460–c. 375 bce), known as the father of medicine, believed in the inheritance of acquired characteristics, and, to account for this, he devised the hypothesis known as pangenesis. He postulated that all organs of the body of a parent gave off invisible ―seeds,‖ which were like miniaturized building components and were transmitted during sexual intercourse, reassembling themselves in the mother‘s womb to form a baby. 9 Module in GENETICS Prof. Christine M. Adlawan Aristotle (384–322 bce) emphasized the importance of blood in heredity. He thought that the blood supplied generative material for building all parts of the adult body, and he reasoned that blood was the basis for passing on this generative power to the next generation. In fact, he believed that the male‘s semen was purified blood and that a woman‘s menstrual blood was her equivalent of semen. These male and female contributions united in the womb to produce a baby. The blood contained some type of hereditary essences, but he believed that the baby would develop under the influence of these essences, rather than being built from the essences themselves. Aristotle‘s ideas about the role of blood in procreation were probably the origin of the still prevalent notion that somehow the blood is involved in heredity. Today people still speak of certain traits as being ―in the blood‖ and of ―blood lines‖ and ―blood ties.‖ The Greek model of inheritance, in which a teeming multitude of substances was invoked, differed from that of the Mendelian model. Mendel‘s idea was that distinct differences between individuals are determined by differences in single yet powerful hereditary factors. These single hereditary factors were identified as genes. Copies of genes are transmitted through sperm and egg and guide the development of the offspring. Genes are also responsible for reproducing the distinct features of both parents that are visible in their children. Preformation and natural selection In the two millennia between the lives of Aristotle and Mendel, few new ideas were recorded on the nature of heredity. In the 17th and 18th centuries the idea of preformation was introduced. Scientists using the newly developed microscopes imagined that they could see miniature replicas of human beings inside sperm heads. French biologist Jean-Baptiste Lamarck invoked the idea of ―the inheritance of acquired characters,‖ not as an explanation for heredity but as a model for evolution. He lived at a time when the fixity of species was taken for granted, yet he maintained that this fixity was only 10 Module in GENETICS Prof. Christine M. Adlawan found in a constant environment. He enunciated the law of use and disuse, which states that when certain organs become specially developed as a result of some environmental need, then that state of development is hereditary and can be passed on to progeny. He believed that in this way, over many generations, giraffes could arise from deerlike animals that had to keep stretching their necks to reach high leaves on trees. British naturalist Alfred Russel Wallace originally postulated the theory of evolution by natural selection. However, Charles Darwin‘s observations during his circumnavigation of the globe aboard the HMS Beagle (1831–36) provided evidence for natural selection and his suggestion that humans and animals shared a common ancestry. Many scientists at the time believed in a hereditary mechanism that was a version of the ancient Greek idea of pangenesis, and Darwin‘s ideas did not appear to fit with the theory of heredity that sprang from the experiments of Mendel. The Work of Mendel Mendel was the pioneer in experimenting and establishing the base of genetics and hence Gregor Johann Mendel is known as the father of genetics. During the period of 1856 to 1865, he experimented on pea plant and discovered the phenomenon of ―inheritance of traits‖. Through these experiments, Mendel saw that the genotypes and phenotypes of the progeny were predictable and that some traits were dominant over others. These patterns of Mendelian inheritance demonstrated the usefulness of applying statistics to inheritance. They also contradicted 19th-century theories of blending inheritance, showing, rather, that genes remain discrete through multiple generations of hybridization. These traits are now known as genes that can be inherited from one generation to another generation. In 1866, he published his research paper describing the law of inheritance and independent assortment. 11 Module in GENETICS Prof. Christine M. Adlawan Some of the milestone discoveries in the genetics are enlisted below: 1842: Wilhelm von Nageli, a Swiss botanist, observed the plant cell. 1866: Mendel‘s research work published under the title of ―experiments on plant hybridization.‖ 1869: Friedrich Miescher discovered the nucleic acid. 1888: Waldeyer identified the chromosome present in the cell. 1889: Richard Altmann purified DNA from the protein. 1905: William Bateson coined the term ―genetics‖. 1908: discovery of Hardy-Weinberg‘s law. 1910: Morgan T, explained that the genes are located on the chromosomes. Also, they experimented on Drosophila Melanogaster and determined the nature of sex-linked traits. 1923: Griffith F, experimented on bacteria and postulated that the DNA is the genetic material. 1953: Watson and Crick identified the structure of DNA. 12 Module in GENETICS Prof. Christine M. Adlawan C. The Scope and Significance of Genetics In the last few decades, the science of genetics has pervaded all aspects of biology so that it has assumed a central position of great significance in biology as a whole. While on the one hand, genetics is used for a study of the mechanism of heredity and variation, on the other hand it has provided tools for the study of the fundamental biological processes examined and taught in areas, like plant physiology, biochemistry, ecology, plant pathology, microbiology, etc. Consequently today every biologist should be bit of a geneticist. Genetics, in fact provided the modern paradigm (a prototype) for whole of biology. The science of genetics also had a tremendous impact in applied areas including medicine, agriculture, forestry, fisheries, law and religion. In view of this, all newspapers often address questions dealing with different aspect of genetics that may be of significance to common man, who is not a geneticist or a biologist. The recent upsurge of biotechnology has added further to the significance of the science of genetics, so that the products of genetics have also become a subject of discussion for Trade Related Aspects of Intellectual Properties (TRIPs) under the aegis of General Agreement on Tariffs and Trade (GATT). Patenting of life forms which may or may not be the product of genetic manipulation is one such topic, which is receiving considerable attention of both developed and developing countries. Genetics can be broadly classified in the following three areas for the convenience of a discussion on its scope and significance: 13 Module in GENETICS (i) Prof. Christine M. Adlawan transmission genetics involving study of transmission of genetic material from one generation to the other; (ii) molecular and biochemical genetics, involving study of the structure and function of genes; and (iii) population and biometrical genetics, involving study of the behavior and effects of genes in population, often using mathematical models. 14 Module in GENETICS Prof. Christine M. Adlawan The above classification is arbitrary, and the three areas are interrelated and even enter other areas of biology to answer some difficult questions. Significance of genetics also stems from the fact that the genetic material containing information for hereditary traits consists of nucleic acids only, across the entire spectrum of life on the earth. More important of the two types of nucleic acids, deoxyribose nucleic acid (DNA) and ribose nucleic acid (RNA), is the former i.e. DNA, which has two unique properties: (i) it can replicate and produce its exact copies; and (ii) it carries the genetic information, necessary to give form to an organism; this information is written into the sequence of four monomers called nucleotides, which make the polymer molecule, the DNA. Genetic Diversity and Evolution Life of Earth exists in tremendous array of forms and features that occupy almost every conceivable environment. Life is also characterized by adaptation: many organisms are exquisitely suited to the environment in which they are found. The history of life is a chronicle of new forms of life emerging, old forms disappearing, and exiting forms changing. Despite their tremendous diversity, living organisms have an important feature in common: all use the same genetic system. A complete set of genetic instructions for any organism is its genome, and all genomes are encoded in nucleic acids-either DNA or RNA. 15 Module in GENETICS Prof. Christine M. Adlawan D. Application of Genetics Man has, without realizing it, exploited DNA for centuries but has only in the last decade discovered how to manipulate the gene directly, and with predictable results. Genetic engineering opens up almost unlimited potential benefits. The production of food, fuel and chemicals may all be improved and new approaches to the control of disease can be found. Nevertheless, monstrous possibilities for the exploitation of these techniques, even for the manipulation of the genes of man himself, spring to mind. APPLICATIONS OF MENDELIAN GENETICS Mendelian genetics treats genes as atoms, unsmashable balls which can be mixed together and then sorted out in new combinations in breeding and selection programs. This concept of particulate genes and the understanding of the patterns of their inheritance has enabled plant and animal breeders to accelerate the process of domestication and the exploitation of the living world by man. Various forms of domesticating selection have been in use throughout human history. Planned breeding programs have included the use of natural and artificial hybrids and the establishment of pure lines with selection. Other Applications of genetic studies are: Disease diagnosis and characterization Identification of pathogenic mutations Preserving biodiversity Identification and characterization of microbes Studying inheritance pattern Creating advanced plant species Creating genetically modified organisms Antibiotic resistance study and drug discovery Genetic/DNA medicines Genetic engineering 16 Module in GENETICS Prof. Christine M. Adlawan Crop improvement Animal and Plant Breeding program Infectious disease diagnosis Screening, prognosis, and diagnosis of cancer Disease diagnosis and characterization. Identification of pathogenic mutations. Preserving biodiversity. Identification and characterization of microbes. Studying inheritance pattern. Creating advanced plant species. Creating genetically modified organisms. DNA fingerprinting. 17 Module in GENETICS Prof. Christine M. Adlawan E. Genetic Terminologies The following are some important terms in the study of Genetics: Allele An alternative form of a gene that occurs at the same locus on homologous chromosomes, e.g., A, B, and O genes are alleles. Amorph A silent gene that does not produce a detectable product (antigen), e.g., O genes in the ABO BGS. Aneuploidy Having an abnormal number of chromosomes, i.e., not an exact multiple of the haploid number. For example, Downs syndrome (three #21 chromosomes) or Klinefelter syndrome (XXY males). Anticodon A sequence of three bases in tRNA that is complementary to a codon in mRNA. Enables tRNA to sequence amino acids in the order specified by mRNA. Antithetical Alternative forms of the same antigen produced by allelic genes, e.g., K and k antigens in the Kell BGS or C and c antigens in the Rh BGS. Autosome A non-sex chromosome. Synonymous with somatic chromosomes (chromosome pairs 1-22). Balanced polymorphism An equilibrium of two or more alleles that has remained constant over long periods of time. Beneficial gene A gene that confirms a trait that is advantageous to survival and that increases in frequency, e.g., the Fy gene that produces the Fy(a-b-) 18 Module in GENETICS Prof. Christine M. Adlawan phenotype which makes West Africans resistant to certain types of malarial parasites. Chromosome Rod-shaped structures within the cell nucleus that carry genes encoded by DNA. Cloned gene A recombinant DNA molecule with the gene of interest. (Also see recombinant DNA.) Co-dominant Genes are co-dominant if both alleles are expressed in the heterozygous state, e.g., K and k genes in the Kell BGS. Codon A sequence of three bases in DNA or RNA that codes for a single amino acid. Enables specific proteins to be made by specific genes. Consanguinity Having a common ancestor, i.e., being blood relatives. Mating between two first cousins, for example, can be termed a consanguineous mating and is indicated in a pedigree by a double bar between the two parents. Such mating can result in an increased frequency of offspring who are homozygous for a recessive autosomal trait possessed by both parents, e.g. cystic fibrosis or the amorphic type of Rh null. Crossing over The exchange of genetic material between members of a pair of homologous chromosomes. For example, if a mating between a male 19 Module in GENETICS Prof. Christine M. Adlawan (MS/Ns) and a female (MS/MS) results in an offspring who is MS/Ms, the recombinant child has occurred due to crossing over in the father. Deletion An abnormality in which part of a chromosome (carrying genetic material) is lost. Deleted phenotype The condition in which antigens that are normally present are missing, e.g., the Rh null phenotype in the Rh BGS. Deleted phenotypes can be caused by inheritance of regulatory genes that do not allow functional (antigen-producing) genes to make their products. Diploid number of chromosomes The number of chromosomes found in somatic cells, which in humans is 46. Dizygotic twins Twins produced from two separate ova that are separately fertilized, i.e. fraternal twins. Only dizygotic twins can exhibit blood group chimerism (shown by mixed field agglutination when antigen typing red cells). DNA Deoxyribonucleic acid. Composed of nucleic acids, these molecules encode the genes that allow genetic information to be passed to offspring. DNA polymerases Enzymes that can synthesize new DNA strands using previously synthesized DNA (or RNA) as a template. DNA probe 20 Module in GENETICS Prof. Christine M. Adlawan A cloned DNA molecule labelled with a radioactive isotope (e.g., 32 P or 35 S) or a nonisotopic label (e.g., biotin). Used in molecular genetics to identify complementary DNA sequences by hybridizing to them. Dominant gene A gene is dominant if it is expressed when heterozygous but its allele is not, e.g. in the Lewis system the Le gene is dominant (expressed in both Le Le and Le le genotypes) and the le gene is recessive. Functional genes Genes that produce proteins, e.g., blood group genes that produce antigens. Gamete A reproductive sex cell (ovum or sperm) with the haploid number (23) of chromosomes that results from meiosis. Gene A segment of a DNA molecule that codes for the synthesis of a single polypeptide. Gene flow Changes in gene frequencies that occur over long periods of time due to migration in which different populations interbreed. An example is the transfer of genes between racial groups, e.g., the "white" genes of the Duffy blood group system (Fya Fyb) have an increased frequency in U.S. blacks compared to African blacks. 21 Module in GENETICS Prof. Christine M. Adlawan Gene interaction The situation in which genes inherited at different loci interact to produce red cell phenotypes, e.g., Le le genes interact with Hh and Se se genes to produce the various Lewis red cell phenotypes. Genome Term used to denote the entire DNA sequence (gene content) of a gamete, person, population, or species. Genotype All of the alleles present at the locus (or closely linked loci) of a blood group system, indicating chromosomal alignment if appropriate, e.g., AO in the ABO BGS, CDe/cde in the Rh BGS, or MS/Ns in the MNSs BGS. Genotypes are indicated by superscripts, underlining, or italics. Haploid number of chromosomes The number of chromosomes found in sex cells, which in humans is 23. Hardy-Weinberg law A law developed in 1908 independently by George Hardy (an English mathematician) and Wilhelm Weinberg (a German physician) that is the basis for calculations used in population genetics. The law is described by the formula p2 + 2pg + q2 = 100%, where p is the frequency of one allele, q is the frequency of the other, p2 and q2 are the homozygous frequencies, and 2pg is the heterozygous frequency. The formula allows us to calculate the frequencies of genes, phenotypes, and genotypes when the frequency of a genetic trait is known. 22 Module in GENETICS Prof. Christine M. Adlawan Harmful gene A gene that confirms a harmful trait such that it is reduced to a level at which it is maintained only by recurrent mutation, e.g., the gene for hemophilia A, which has a mutation rate of 1 in 10,000. Hemizygous Inheritance of an X-linked gene in males, e.g. the Xga gene or the gene for hemophilia A is said to be hemizygous in males since they have only one X chromosome. Heterozygous The situation in which allelic genes are different, e.g. the Kk genotype in the Kell BGS or the Fya Fyb genotype in the Duffy BGS. Homologous chromosomes A matched pair of chromosomes, one from each parent, e.g., two #6 chromosomes. Homozygous The situation in which allelic genes are identical, e.g., the KK genotype or the Fya Fya genotype. HUGO Acronym for Human Genome Organization, an international organization conceived in 1988 to co-ordinate the Human Genome Project. Human Genome Project A worldwide project to map and sequence the human genome. The ultimate goal is to produce the complete nucleotide sequence of every human chromosome. (Also see HUGO.) 23 Module in GENETICS Prof. Christine M. Adlawan Immune response genes Name given to genes that appear to be able to control whether a person is likely or unlikely to make red cell antibodies. Help explain why some transfusion recipients are hyper-responders (make multiple alloantibodies) and others, even when transfused with a very immunogenic antigen like D from the Rh system, never produce antibodies. (About 30% of D-negative people appear incapable of making anti-D.) The genes that regulate the immune response may be linked to the genes of the major histocompatibility complex (MHC) or may be the MHC genes themselves. Karyotype A photomicrograph (photograph taken through a microscope) of all the chromosomes in a person, arranged in standard classification (from #1 chromosomes through to the sex chromosomes). Linkage Genes are linked if they are on the same chromosome within a measurable distance of each other and are normally inherited together, e.g., Lutheran and Secretor genes are linked as are the Dd, Cc, Ee subloci in the Rh BGS. Locus The location of allelic genes on the chromosome, e.g., A, B, and O genes occur at the ABO locus. (Plural = loci) Mapping of genes A variety of processes that include discovering that a gene is linked to another gene (which can serve as a marker for it), assigning genes to particular chromosomes, assigning genes to specific regions on chromosomes, and determining nucleotide sequences on chromosomes. 24 Module in GENETICS Prof. Christine M. Adlawan Meiosis The type of cell division that occurs in sex cells by which gametes having the haploid number of chromosomes are produced from diploid cells. Messenger RNA (mRNA) Type of RNA polymerase using DNA as a template. Contains the codons that encompass the genetic codes to be translated into protein. Mitosis Cell division that results in the formation of two cells, each with the same number of chromosomes as the parent cells, i.e., cell division that forms all new cells except sex cells. Modifying gene A regulatory gene (usually at a different locus than blood group genes) that in some way alters the expression of the blood group genes. Also called suppressor genes. Monozygotic twins Twins derived from a single fertilized ovum, i.e., identical twins. Mutation A permanent inheritable change in a single gene (point mutation) that results in the existence of two or more alleles occurring at the same locus. Blood group polymorphism has been caused by mutations occurring over long periods of time. Nondisjunction The failure of two members of a chromosome pair to disjoin during anaphase. For example, an offspring with the AB/O genotype can be 25 Module in GENETICS Prof. Christine M. Adlawan produced if a group AB male mates with a group O female and nondisjunction happens in the father. Nucleic acids Polymers of phosphorylated nucleosides, the building blocks of DNA and RNA. Nucleoside The building blocks of RNA and DNA. Compounds consisting of a purine (adenine or guanine) or pyrimidine (thymine or cytosine) attached to ribose (in RNA) or deoxyribose (in DNA) at the 11 carbon. Pedigree A diagram representing a family tree. Phenotype The antigens (traits) that result from those genes that are directly expressed (can be directly antigen typed), e.g., group A in the ABO BGS or D+C+E- c+e+ in the Rh BGS. Plasmid Extrachromosomal circular DNA in bacteria. Plasmids can independently replicate and encode a product for drug resistance or some other advantage. Used in molecular genetics as vectors for cloned segments of DNA. Polymerase chain reaction An in vitro method of amplifying DNA sequences hundreds of millions to billions of times in a few hours. Developed in 1984-1985 by Mullis, Saiki, et al. 26 Module in GENETICS Prof. Christine M. Adlawan Polymorphism The existence of two or more different phenotypes resulting from two or more alleles, each with an appreciable frequency. Most blood group systems are polymorphic. Polypeptides Polymers of amino acids that form the building blocks of proteins. Population genetics The branch of genetics that deals with how genes are distributed in populations and how gene and genotype frequencies stay constant or change. Calculations are based on the Hardy-Weinberg law. Proband The family member whose phenotype leads to a family study. Also called an index case. Recessive Genes are recessive if the phenotype that they code for is only expressed when the genes are homozygous, e.g., le le genes, in the Lewis system or h h genes in the ABO BGS. Recombinant A person who has a new combination of genes not found together on the chromosome in either parent, e.g., an MS/Ns offspring whose parents are Ms/NS and MS/MS. A recombinant results from crossing over in one parent. Recombinant DNA In molecular genetics, artificially made DNA composed of fragments of DNA from different chromosomes (often from different species) that have been joined together (spliced) by genetic engineering. For example, 27 Module in GENETICS Prof. Christine M. Adlawan healthcare workers are routinely vaccinated with a recombinant hepatitis B vaccine made by inserting a piece of the hepatitis B virus genome (the part that codes for the HBsAg) into yeast cells via a plasmid. The yeast cells then produce a large amount of HBsAg, which is purified into the vaccine and stimulates the production of protective anti-HBs antibodies. Regulatory genes In the operon model, genes that inhibit an operator gene so that it prevents its functional genes from producing proteins. Restriction endonucleases DNA enzymes of bacterial origin that can cleave DNA at internal positions on a strand because they recognize specific sequences (usually 4-6 base pairs). The enzymes evolved in bacteria as defenses against the invasion of foreign DNA in the form of viruses or plasmids and are used in molecular genetics to chop up DNA at particular locations. Restriction fragment length polymorphisms (RFLP) Regions of DNA of varying lengths that can be cut out of DNA by restriction endonucleases. Because the fragment lengths vary among individuals, they are polymorphic and can be used as genetic markers. Reverse transcriptase An RNA-dependent DNA polymerase that synthesizes DNA from an RNA template. Used by retroviruses like the human immunodeficiency virus (HIV) to make proviral DNA from its RNA genome. Ribosomal RNA (rRNA) Type of RNA found in ribosomes, the site of protein synthesis in the cytoplasm. 28 Module in GENETICS Prof. Christine M. Adlawan Ribosomes Complexes of rRNA and protein in cytoplasm that serve as platforms for translation for mRNA into protein. RNA Ribonucleic acid. Nucleic acids that are formed using DNA as a template. Similar to DNA except has ribose in place of deoxyribose and uracil in place of thymine. (Also see messenger RNA, ribosomal RNA, and transfer RNA.) Sex chromosomes The chromosomes that determine sex. XX in females and XY in males. Sex-linked An outdated term for genes on the X chromosome. Historically synonymous for X-linked since, apart from genes essential for male sex determination, the Y chromosome appears to have few recognized gene loci . Somatic chromosome A non-sex chromosome (soma=body). Synonym is autosome. Syntenic Genes are on the same chromosome but are not close enough for linkage to be demonstrated. Transcription Synthesis of single-stranded RNA by RNA polymerase using DNA as a template. The process in the nucleus whereby DNA is transcribed into mRNA. 29 Module in GENETICS Prof. Christine M. Adlawan Transfer RNA (tRNA) Type of RNA that facilitates translation of mRNA into protein. Contains anticodons that provide the molecular link between the codons of mRNA and the amino acid sequences of proteins. Transient polymorphism A temporary polymorphism in which an allele (harmful gene) is disappearing or an allele (beneficial gene) is increasing in frequency. Translation The process of translating the codon sequence in mRNA into polypeptides with the help of tRNA and ribosomes . Trans position Genes in the trans position are on opposite chromosomes of a pair of homologous chromosomes. In the genotype CDe/cde, for example, D and c genes are in the trans position. X-chromosome The sex chromosome present in double dose in females (XX) and in single dose in males (XY). X-linked Genes on the X chromosome, e.g., genes for hemophilia A, hemophilia B, and Xga blood group genes. Y-chromosome The sex chromosome present only in males (XY). 30 Module in GENETICS Prof. Christine M. Adlawan APPLICATION From the discussion above, answer the following questions briefly: 1. What do you think are the advantages and disadvantages of genetic testing? 2. Do our genes determine who we are? 3. If a behavior or trait is genetically based, does that make it morally acceptable—or at least excusable? Share your thoughts about it. ASSESSMENT This test will be given through Google forms. Make sure to be ready on the scheduled date of the assessment. FEEDBACK Do you have any question relative to our topic? Write them below. ______________________________________________________________ ______________________________________________________________ ______________________________________________________________ ______________________________________________________________ ______________________________________________________________ ___________________________________________________________ 31 Module in GENETICS Prof. Christine M. Adlawan SUMMARY To aid you in reviewing the important concepts in this module, here are the highlights. Genetics is a field of biology that studies how traits are passed from parents to their offspring. The passing of traits from parents to offspring is known as heredity; therefore, genetics is the study of heredity. Genetics is built around molecules called DNA. DNA molecules hold all the genetic information for an organism. It provides cells with the information they need to perform tasks that allow an organism to grow, survive and reproduce. A gene is one particular section of a DNA molecule that tells a cell to perform one specific task. Heredity is what makes children look like their parents. During reproduction, DNA is replicated and passed from a parent to their offspring. This inheritance of genetic material by offspring influences the appearance and behavior of the offspring. The environment that an organism lives in can also influence how genes are expressed. Genetics as a scientific discipline stemmed from the work of Gregor Mendel in the middle of the 19th century. All present research in genetics can be traced back to Mendel‘s discovery of the laws governing the inheritance of traits. Genetics are classified into three areas: transmission genetics, molecular and biochemical genetics and population and biometrical genetics. 32 Module in GENETICS Prof. Christine M. Adlawan REFERENCES Reece, JB., Campbell, N.A, Urry, L.A, et.al., Campbell Biology. 11th edition. A.J.S. McMillan. Introduction to Genetics.1st Edition. Hardcover ISBN: 9781483229140. eBook ISBN: 9781483282510 https://sites.ualberta.ca/~pletendr/tm-modules/genetics/70genterm.html Ayala, F.J. and J.A. Kiger, Jr. 1984. Modern Genetics (2nded or latest edition). Benjamin Cummings Pub. Co., Inc. Calif. Burns, G. and P.J. Bottin. 1989. The Science of Genetics. MacMillan Pub. Co., N.Y. Etienne-Decant, J. 1988. Genetic Biochem: From Gene to Protein. Ellis Harwood Ltd., Great Britain. https://www.whatisbiotechnology.org/index.php/science/summary/Gen etics 33