1 Patterns of Gene Inheritance (Chapters 10 & 11) Gene: unit of heredity Individual genes, or DNA segments, contain the genetic blue-print which is ultimately expressed in our hair color, blood type, etc. DNA is packaged in chromosomes Homologous chromosomes: chromosomes of the same size and shape that contain genes for the same trait Each somatic cell contains 23 pairs of homologous chromosomes (diploid number) o 1 pair of the chromosomes are sex chromosomes (XY or XX) that determine gender o other 22 pairs of chromosomes called autosomal chromosomes guide the expression of every other trait Mendel’s Law of Segregation each individual has to factors for each trait factors separate during meiosis each gamete contains one factor for each trait Terminology of genetics Alleles: genes coding for the same traits on each pair of homologous chromosomes Alleles may be identical or different in their influence For example, member of a gene pair, or alleles, coding for hairline shape on your forehead may specify straight across or widow’s peak When both alleles in a homologous chromosome pair have the same expression, the individual is said to be homozygous for that trait o Homozygous: when two alleles controlling a single trait are identical When alleles differ in their expression, the individual is heterozygous for that trait and typically one of the alleles, called the dominant allele will exert its effects o Heterozygous: when two alleles controlling a single trait differ in their expression for the trait Dominant allele: gene that is always expressed if present Recessive allele: gene that is not expressed in the presence of a dominant allele Genotype: refers to an individual’s genetic makeup (i.e., whether homozygous or heterozygous for the various alleles) two letters are used to designate each trait since homologous chromosomes each contain genes for a particular trait Trait: hairline shape 2 W = Widow’s peak (dominant allele) w = Straight hairline (recessive allele) Genotype written as: Phenotype Homozygous dominant WW Heterozygous Ww Homozygous recessive ww Widow’s peak Widow’s peak straight hairline Phenotype: characteristics of the individual based on expression of the genes Punnett Square: Method used to calculate probable results of a genetic cross i.e., predict genotypes and phenotypes of offspring Example: Trait earlobe shape D = detached earlobes (dominant allele) d = attached earlobes (recessive allele) Mother = homozygous dominant Father = homozygous recessive What type of earlobe shape will their children have? Heterozygous detached earlobes If these children (Dd) reproduce with individuals of the same genotype, what type of earlobe shape will their children have? Other Forms of Inheritance: Certain traits follow the rules of simple Mendelian inheritance (i.e., dominant-recessive type of inheritance), but other inheritance patterns exist for many traits Multiple Alleles: more than two alleles control a particular trait For example: blood type Blood types: A, B, AB, and O are phenotypes caused by three different alleles Each person has only two of the three alleles A and B are dominant and will be fully expressed in the presence of the other called codominance Type O is recessive Phenotype A B AB O Genotype AA, Ao BB, Bo AB oo 3 Blood typing can sometimes aid paternity suits, but they can only suggest that an individual is the supposed father. In most cases they can only exclude possible paternity. ♀ Ao x ♂ Bo ♀ Bo x ♂AB Incomplete dominance the heterozygote has a phenotype intermediate between the homozygous dominant and the homozygous recessive Example: Sickle-Cell Anemia Genetic Disorders Sickle-cell gene demonstrates incomplete dominance Autosomal dominant disorders o Genotype AA or Aa (heterozygous) will have disorder o Example: Huntington’s Disease Neurological disorder resulting in degeneration of brain cells Autosomal recessive disorders o Genotype aa will have disorder, but Aa is a carrier o Example: cystic fibrosis Most common lethal genetic disorder in US 1 in 20 caucasians are carriers o Carrier: individual who has the abnormal recessive gene not expressed since they are heterozygous Nondisjunction: o failure of homologous chromosomes or sister chromatids to separate during meiosis in the process of oogenesis or spermatogenesis Result: abnormal number of chromosomes inherited by gametes offspring inherit an extra chromosome or are missing a chromosome procuces syndrome: a group of symptoms that appear together and indicate the presence of a particular disorder Autosomal Nondisjunction: Down Syndrome usually have three copies of chromosome 21 because the egg had two copies instead of one 4 Sex Chromosome Nondisjunction Turner syndrome (XO) Triplo-X (XXX) Sex-linked Inheritance (or X-linked inheritance) XX female XY male The gender of a newborn is determined by the father: o If a Y containing sperm fertilizes the egg, then the XY combination results in a male o If an X-containing sperm fertilizes the egg, the XX combination results in a female X-linked inheritance Body traits that are inherited from the X-chromosome A male always receives sex-linked condition from his mother The Y chromosome from the father does not carry an allele for the trait Usually the trait is recessive the female must receive two alleles before she has the condition Common X-linked recessive disorders: o Color blindness o Hemophilia: blood clotting disorder o Muscular dystrophy: degeneration of muscle tissue Example: red-green color-blindness XB = normal color vision Xb = color blind ♀ XBXb (carrier) ♂ XBY (normal)