Biology 10 Lecture Chapter 23 - Patterns of Gene Inheritance I. Overview A. Mendel’s Laws B. Genetic Disorders C. Beyond Simple Inheritance Patterns II. Mendel’s Laws A. DNA in chromosomes contain thousands of segments called _____ 1. Genes in DNA direct the formation of __________ in cells, thus determine inherited ________ 2. Genes have specific ______ sequences and are found in particular regions, called ______ (sgl., locus), on a chromosome 3. _________ are genes that control the same trait (e.g., eye color), and are found in the same loci on _____________ chromosomes. 4. Alleles are represented by paired __________ (e.g., BB, Bb, bb) a. ______________ allele: gene that controls for a trait that is _________ whether it’s paired with another dominant allele or with a recessive allele. 1) _____________ dominant has 2 of the same dominant alleles (e.g.: BB). 2) _____________ has one dominant and one recessive allele (e.g.: Bb). An individual that is heterozygous for a trait is often called a ________ of the trait. b. _____________ allele: gene that controls a trait that is only evident if the allele is paired with another recessive allele. 1) Homozygous recessive has 2 of the same ___________ alleles (e.g.: bb). B. Gregor __________ (Austrian monk 1860): Father of ________ 1. Experimented on pea plants and discovered that each pea plant trait is controlled by 2 “__________” (alleles). 2. One factor was __________ (e.g., yellow seeds) over the other, which was ____________ (e.g., green seeds). 3. His findings led him to formulate the _____ of segregation and independent assortment C. Segregation and Independent Assortment of Chromosomes (and their alleles) occurs during _________. 1. Law of ____________ ____________ a. Each pair of homologous chromosomes can align (assort) itself in ____ possible ways in ____________ I and does so independently of the other chromosomes. b. All possible ____________ of homologues can occur in the gametes (sperm and egg). c. This law is used when solving genetics problems involving alleles on __________ pairs of homologous chromosomes 2. Law of ______________ a. Each homologous pair of chromosomes has two ________ for each trait. b. The chromosomes and their alleles __________ (separate) during ____________ I. 2 c. Each resulting gamete contains only ___ chromosome and its _________ from each homologous pair. d. Fertilization gives the new individual ___ alleles for each trait. e. This law is used when solving _____trait genetics problems. D. Inheritance of a ______ Trait with alleles on same pair of homologous chromosomes (___________ Dominance). Terms: 1. ___________ - type of genes an individual has for a particular trait(s) (e.g.: ___ = homozygous dominant, ___ = heterozygous, ___ = homozygous recessive). 2. ___________ - physical or observable characteristics that result from the genotype (e.g.: widow’s peak vs continuous hairline). 3. Gamete Formation – because segregation of alleles occurs during meiosis, each gamete will contain only ___ of each type of allele. 4. Punnett Square - device used to determine the ____________ of possible genotypes and phenotypes of simple genetic crosses. Directions for creating punnett squares (Widow’s peak activity): a. Determine ___________ of P (parental) generation and all possible __________ in their gametes. W=widow’s peak, w=straight hairline. b. For this exercise, assume both parents are _____________ (heterozygous=Ww), so each of their gametes would contain a dominant (W) or a recessive (w) allele]. c. Align all possible combinations of _____ vertically and ___ horizontally (or vice versa). d. Merge egg & sperm alleles in converging squares, then determine probable proportions of ___________ and ________ of children (F = filial generation). e. Monohybrid cross always results in ___:__ phenotypic ratio of offspring. f. Chance has no memory - each new child has the same ___________ of genotypes & phenotypes. 5. One Trait __________ a. Used to determine whether an individual with a _________ phenotype is homozygous dominant or heterozygous by crossing with a homozygous ____________ individual. b. No recessive phenotype offspring indicates that the parent is homozygous ___________. c. Any offspring with recessive phenotype indicates that the parent is _____________ E. Inheritance of _____ Traits on Different Pairs of Homologous Chromosomes (Complete Dominance). Directions: 1. Determine parental ___________ (we’ll assume both parents are ____________ WwSs x WwSs). W=widow’s peak, w=straight hairline; S=short fingers, s=long fingers. 2. Determine all possible ________ combinations in gametes, remember that each gamete receives only ___ of each allele (e.g.: ___, ___, ___, ___). 3. Set up a Punnett Square with ___ squares. 3 4. 5. Join _________ from gametes in converging squares. Determine _____________ ratio of offspring from resulting genotypes. (Dihybrid cross always results in 9:3:3:1 phenotypic ratio.) III. Genetic Disorders (__________) - Many human disorders are due to abnormalities of single allele pairs. A. ___________ charts can determine if a disorder is inherited. 1. Males are represented by _________, females by _________. 2. Horizontal line between circle & square represents a _______. 3. Vertical lines extend down to _____________ from union. B. Autosomal ____________ Genetic Disorders 1. Caused by a __________ allele on an autosomal (not sex) chromosome. 2. A child and at least one _________ is affected. 3. Example: ________________’s Disease a. Result of an abnormal gene on chromosome __. b. Disease does not usually develop until ___________ age. c. Causes degeneration of _______ cells; person gradually loses control of muscle function and dies. 4. Do Punnett square of autosomal dominant disorder. C. Autosomal __________ Genetic Disorders 1. Disorder is only present if both alleles for the trait are _______ on homologous chromosomes. 2. Parents are usually heterozygous ________ of a recessive gene. 3. Homozygous recessive _______ is affected but parents are not 4. Example: Phenylketonuria (____) a. Result of abnormal gene on chromosome ___. b. Caused by lack of enzyme to break down ______________ (an amino acid). c. ________________ accumulate in blood & urine. d. Newborns are routinely tested for ____ in hospitals. e. Diet low in ______________ can prevent mental retardation. 5. Do Punnett square PKU practice problem. IV. Beyond Simple Inheritance Patterns A. _____________ Inheritance 1. Controlled by two or more sets of ____________, often on different pairs of homologous chromosomes. 2. Different alleles may have an __________ effect on the trait. 3. Example: skin ________. a. Couple with dark and light skin have ___________ skin color children. b. Couple with medium brown skin color have children with skin colors from _______ to _________. 4. Polygenic Disorders include ______, diabetes, hypertension, and many others. 4 B. ___________ Alleles 1. Within a population, there may be __ or more alleles that affect the same trait. 2. Each person still has only ___ of the alleles for the trait. 3. Example: _____ Blood Types a. Type __ has __ antigen on RBC surface and antibodies against __ antigen; alleles are AA or AO (A is dominant). b. Type __ has __ antigen on RBC surface and antibodies against __ antigen; alleles are BB or BO (B is dominant). c. Type ___ has __ & __ antigens on RBC surface and no antibodies against __ or __; alleles are AB (codominant). d. Type __ has no _______ on RBC surface, but has ________ against A & B antigen; alleles are OO (recessive alleles). e. Do Punnett square on how to determine blood type. 4. ___ Factor a. Inherited separately from ____ blood types. b. Rh+ has _________ on RBC surface, Rh- does not. c. If Rh- woman marries Rh+ man, fetus may be ___. d. Rh- mother exposed to Rh+ fetus’ blood builds up _________ against Rh+ blood. e. If subsequent baby is Rh+, mother’s ____________ can cross placenta and destroy the fetus’ RBCs. C. Incomplete & Codominance 1. Occurs when neither member of an allelic pair is _________ over the other. 2. _____________ - both alleles are expressed equally (e.g.: __ blood type). 3. ______________ Dominance – heterozygous genotype has an _____________ phenotype between the dominant and recessive. Example: _________ Cell Anemia a. A defective gene produces abnormal __________ (Hb), the oxygen-carrying protein in RBCs, so they assume a _________ shape and clog arteries. b. Genotype HbSHbS has full blown ________ cell disease. c. Genotype HbAHbA has _________ hemoglobin. d. Genotype HbSHbA (heterozygous) has the sickle cell _____ (a mild form of the disease). e. Sickle cell anemia more prevalent among persons from Africa, where ___________ is prevalent. f. Sickle cell trait protects RBCs from effects of malaria, thus large numbers of ________________ are preserved in the population.