Chapter 11~ The Basic Principles of Heredity

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1 Chapter 11~ The Basic Principles of Heredity

2 Mendelian genetics Character (heritable feature, i.e., fur color) Trait (variant for a character, i.e., brown) True-bred (all offspring of same variety) Hybridization (crossing of 2 different truebreds) P generation (parents) F1 generation (first filial generation)

3 Leading to the Law of Segregation Alternative versions of genes (alleles) account for variations in inherited characteristics For each character, an organism inherits 2 alleles, one from each parent If the two alleles differ, then one, the dominant allele, is fully expressed in the organism s appearance; the other, the recessive allele, has no noticeable effect on the organism s appearance The alleles for each character segregate (separate) during gamete production (meiosis). Mendel s Law of Segregation

4 Genetic vocabulary. Punnett square: predicts the results of a genetic cross between individuals of known genotype Homozygous: pair of identical alleles for a character Heterozygous: two different alleles for a gene Phenotype: an organism s traits Genotype: an organism s genetic makeup Testcross: breeding of a recessive homozygote X dominate phenotype (but unknown genotype)

5 The Law of Independent Assortment Law of Segregation involves 1 character. What about 2 (or more) characters? Monohybrid cross vs. dihybrid cross The two pairs of alleles segregate independently of each other. Mendel s Law of Independent Assortment

6 Genetic Ratios Expressed as probabilities Probability expressed as fraction or decimal fraction favorable events divided by total events Range from 0 (impossible event) to 1 (certain event)

7 Rules of Probability

8 The Product Rule The probability of two independent events occurring together multiply the probabilities of each event occurring separately Therefore, the probability of obtaining heads two times in a row = ½ X ½ = ¼ or The probability of Bb X Bb parents having a bb child is ½ X ½ = ¼

9 The Sum Rule The probability of an outcome that can be obtained in more than one way add the separate probabilities Therefore, the probability of Bb X Bb obtaining a Bb child is ¼ + ¼ = ½

10 Monohybrid Cross

11 Dihybrid Cross

12 The Chromosomal Theory of Inheritance Genes have specific loci on chromosomes and chromosomes undergo segregation and independent assortment

13 Chromosomal Linkage Morgan Drosophilia melanogaster XX (female) vs. XY (male) Sex-linkage: genes located on a sex chromosome Linked genes: genes located on the same chromosome that tend to be inherited together

14 Genetic recombination Crossing over Genes that DO NOT assort independently of each other Genetic maps The further apart 2 genes are, the higher the probability that a crossover will occur between them and therefore the higher the recombination frequency Linkage maps Genetic map based on recombination frequencies

15 Crossing-Over

16 Linkage in Fruit Flies

17 Calculations of Recombination Frequency Number of parental-type offspring = = 1909 Number of recombinant-type offspring = = 391 Total number of offspring = = 2300 Recombinant frequency = 391/2300 = 17%

18 Human sex-linkage SRY gene: gene on Y chromosome that triggers the development of testes Fathers= pass X-linked alleles to all daughters only (but not to sons) Mothers= pass X-linked alleles to both sons & daughters Sex-Linked Disorders: Color-blindness; Duchenne muscular dystropy (MD); hemophilia X-inactivation: 2nd X chromosome in females condenses into a Barr body (e.g., tortoiseshell gene gene in cats)

19 X-Linked Color Blindness

20 Non-single gene genetics, I Incomplete dominance: appearance between the phenotypes of the 2 parents. Ex: snapdragons Codominance: two alleles affect the phenotype in separate, distinguishable ways. Ex: Tay-Sachs disease Multiple alleles: more than 2 possible alleles for a gene. Ex: human blood types

21 Non-single gene genetics, II Pleiotropy: genes with multiple phenotypic effect. Ex: sickle-cell anemia Epistasis: a gene at one locus (chromosomal location) affects the phenotypic expression of a gene at a second locus. Ex: mice coat color Polygenic Inheritance: an additive effect of two or more genes on a single phenotypic character Ex: human skin pigmentation and height

22 Epistasis

23 Polygenic Inheritance

24 Chromosomal errors, I Nondisjunction: members of a pair of homologous chromosomes do not separate properly during meiosis I or sister chromatids fail to separate during meiosis II Aneuploidy: chromosome number is abnormal Monosomy~ missing chromosome Trisomy~ extra chromosome (Down syndrome) Polyploidy~ extra sets of chromosomes

25 Chromosomal errors, II Alterations of chromosomal structure: Deletion: removal of a chromosomal segment Duplication: repeats a chromosomal segment Inversion: segment reversal in a chromosome Translocation: movement of a chromosomal segment to another

26 Human disorders The family pedigree Recessive disorders: Cystic fibrosis Tay-Sachs Sickle-cell Dominant disorders: Huntington s Testing: amniocentesis chorionic villus sampling (CVS)

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