UNIT VI - MENDELIAN GENETICS Baby Campbell – Ch 9 Big Campbell – Ch 14, 15

I. MENDEL Mendel’s Experiments o Worked with ______________ o Eliminated ________________________ and controlled ____________________ o P Generation - True-breeding pea plants with one trait X true-breeding pea plants with another trait o Produced hybrids also known as F 1  ___________________________  F 1 Phenotype =  F 1 Genotype = o F 1 X F 1 → F 2  ___________________________  F 2 Phenotype Ratio =  F 2 Genotype Ratio = pea plants self-pollination cross-pollination TT x tt 4 tall : 0 short 0 TT : 4 Tt : 0 tt Tt x Tt 3 tall : 1 short 1 TT : 2 Tt : 1 tt

I. MENDEL, cont Mendel’s Principles 1)Alternative versions of genes known as ______________ account for variations in inherited characters. 2)Organisms inherit _____ alleles for each trait 3)If alleles at a locus differ; that is; if the genotype is _______________, the allele that shows is known as the ________________ allele. 4)Law of Segregation – two alleles for a heritable character segregate during meiosis 5)Law of Independent Assortment – each pair of alleles segregates independently of each other pair of alleles during meiosis alleles 2 heterozygous dominant

II. ANALYZING PROBABILITY OF TRAIT INHERITANCE Test Cross o Organisms with dominant phenotype crossed with _____________________________ to determine genotype Punnett Square Multiplication Rule o States the probability of 2 or more independent events occurring together can calculated by multiplying individual probabilities o For example,  Determine the probability of a homozygous recessive short plant produced from F 1 X F 1  Cross = Tt x Tt  Probability of egg carrying t = ½  Probability of sperm carrying t = ½  Probability of tt offspring = ¼ homozygous recessive

II. ANALYZING PROBABILITIES, cont Addition Rule oStates that the probability of 2 or more mutually exclusive events occurring can be calculated by adding together their individual probabilities oFor example,  Determine the probability of a heterozygous plant produced from F 1 X F 1  Tt x Tt  Chance of egg carrying T = ½  Chance of sperm carrying t = ½  Chance of sperm carrying T = ½  Chance of egg carrying t = ½  Probability of Tt offspring = ¼ + ¼ = ½

II. ANALYZING PROBABILITIES, cont Crosses Involving Multiple Characters oDetermine the genotype ratios of the offspring for the cross BbDD X BBDd

II. ANALYZING PROBABILITIES, cont Crosses Involving Multiple Characters oDetermine the genotype ratios of the offspring for the cross YyRr X YyRr

II. ANALYZING PROBABILITIES, cont Crosses Involving Multiple Characters oIn the cross, PpYyRr X Ppyyrr, what is the probability of offspring that are purple, green, & round?  P= purple, p = white  Y = yellow, y = green  R = round, r = wrinkled

Probability Practice Makes Perfect! In pea plants, long stems are dominant to short stems purple flowers are dominant to white, and round seeds are dominant to wrinkled. A plant that is heterozygous for all three loci self-pollinates and 2048 progeny are examined. How many of the resulting plants would you expect to be long-stemmed with purple flowers, producing wrinkled seeds?

II. ANALYZING PROBABILITIES, cont Pedigree Analysis

Recessive Trait

Dominant Trait…

III. VARIATIONS IN INHERITANCE Co-Dominance oBoth alleles affect phenotype in separate & distinguishable ways oOften designated with 2 different “big letters” Incomplete Dominance oNeither allele is dominant; heterozygotes show a blend of two homozygous phenotypes oOne allele designated with “big letter’, the other with “big letter prime”; for example T T’

III. VARIATIONS IN INHERITANCE, cont Multiple Alleles oMany genes have more than 2 alleles oExample, ABO blood groups in humans oThree alleles  PhenotypeGenotype A B AB O A woman with O blood has a child with Type A blood. The man she claims is the father has AB blood. Is it possible that he is the father of this child?

III. VARIATIONS IN INHERITANCE, cont Polygenic Inheritance oFor example, AABBCC = very dark skin; aabbcc = very light skin. oIntensity based on units; in other words, AaBbCc and AABbcc individuals would have the same pigmentation

III. VARIATIONS IN INHERITANCE, cont Epistasis oGene at one locus alters phenotypic expression of a gene at a second locus oFor example, A dominant allele, P causes the production of purple pigment; pp individuals are white. A dominant allele C is also required for color production; cc individuals are white. What proportion of offspring will be purple from a ppCc x PpCc cross?

III. VARIATIONS IN INHERITANCE, cont Pleiotropy

III. VARIATIONS IN INHERITANCE, cont Environmental Impact on Phenotypes

IV. SEX-LINKED INHERITANCE o First recognized by Thomas Hunt Morgan  Drosophila melanogaster  Fruit flies  Excellent organism for genetic studies  Prolific breeding habits  Simple genetic make-up; 4 pairs of chromosomes → 3 pairs of autosomes, 1 pair of sex chromosomes  Crossed true-breeding wild-type females with true-breeding mutant males  Mutant trait showed up in ½ male F 2 offspring ; was not seen in F 2 females o Determined mutant allele was on X-chromosome; thus inherited differently in males versus females  In females,  In males,

IV. SEX-LINKED INHERITANCE, cont Red-green colorblindness is caused by a sex-linked recessive allele. A color- blind man marries a woman with normal vision whose father was colorblind. What is the probability she will have a colorblind daughter?

IV. SEX-LINKED INHERITANCE, cont The gene for amber body color in Drosophila is sex-linked recessive. The dominant allele produces wild type body color. The gene for black eyes is autosomal recessive; the wild type red eyes are dominant. If males with amber bodies, heterozygous for eye color are crossed with females heterozygous for eye color and body color, calculate the expected phenotype ratios in the offspring.

IV. SEX-LINKED INHERITANCE, cont X Inactivation in Females o During embryonic development, one X chromosome in female cells is inactivated due to addition of methyl group to its DNA o Dosage compensation o Inactive X chromosome condenses; known as Barr body

IV. SEX-LINKED IN INHERITANCE, cont o Occurs randomly  Females will have some cells where “Dad’s copy” of X is inactivated, some where “Mom’s copy” is inactive  Therefore, females are a mosaic of cells  Preserved in mitosis  In ovaries, Barr body chromosome is reactivated for meiosis and oogenesis

IV. SEX-LINKED INHERITANCE, cont X Inactivation  Calico coloration in female cats

V. GENE MUTATIONS o Change in the nucleotide sequence o May be spontaneous mistakes that occur during replication, repair, or recombination o May be caused by mutagens; for example, x-rays, UV light, carcinogens o If changes involve long stretches of DNA, known as chromosomal mutations o Point mutations – change in a gene involving a single nucleotide pair; 2 types  Substitution  Frameshift – due to addition or deletion of nucleotide pairs

V. GENE MUTATIONS, cont Classification of Gene Mutations o Traits may be described as dominant, recessive, etc. based on the effect of the abnormal allele on the organism’s phenotype o Instruction encoded by genes carried out through protein synthesis o Vast majority of proteins are enzymes o Abnormal allele → Defective enzyme  If the enzyme produced by the normal allele is present in sufficient quantities to catalyze necessary reactions,  No noticeable effect on phenotype  Defective allele is classified as recessive  If the lack of normal enzyme production by defective allele cannot be overcome by normal allele,  Organism’s phenotype is affected  Defective allele is classified as dominant

VI. INHERITED GENETIC DISORDERS Due to gene mutations Classified as autosomal or sex-linked, depending on chromosome location of affected gene Autosomal Disorders – Grouped according to path of inheritance oAutosomal Recessive Disorders

VI. INHERITED GENETIC DISORDERS  Albinism

VI. INHERITED GENETIC DISORDERS, cont  Cystic Fibrosis

VI. INHERITED GENETIC DISORDERS, cont  PKU

VI. INHERITED GENETIC DISORDERS, cont  Tay-Sachs

VI. INHERITED GENETIC DISORDERS, cont o Autosomal Co-Dominant Disorders  Sickle Cell Anemia

VI. INHERITED GENETIC DISORDERS, cont o Autosomal Dominant Disorders  Huntington’s Disease

VI. INHERITED GENETIC DISORDERS, cont Autosomal Dominant Disorders  Marfan Syndrome

VI. INHERITED GENETIC DISORDERS, cont Autosomal Dominant Disorders  Achondroplasia

VI. INHERITED GENETIC DISORDERS, cont Hypercholesteremia

VI. INHERITED GENETIC DISORDERS, cont Sex-Linked Disorders o All o Affect o Hemophilia

VI. INHERITED GENETIC DISORDERS, cont o Colorblindness o Duchenne Muscular Dystrophy

VII. TESTING FOR INHERITED GENETIC DISORDERS Identification of Carriers/Genetic Counseling o Tests are available for Tay-Sachs, sickle cell, cystic fibrosis, Huntington’s, PKU, & many others PGD – Preimplantation Genetic Diagnosis

VII. GENETIC TESTING, cont Fetal Testing o Amniocentesis  Performed between 14 th -16 th weeks of pregnancy  Cells collected, tested

VII. GENETIC TESTING, cont o Chorionic Villus Sampling (CVS)  Narrow tube inserted through mother’s vagina, cervix  Small tissue sample suctioned from placenta (organ that transmits nutrients, removes wastes from fetus)  Testing may be done earlier in pregnancy but not suitable for all types of testing Newborn Screening o PKU

VIII. CHROMOSOMAL BASIS OF INHERITANCE Chromosomal Theory of Inheritance o States genes occupy specific loci on chromosomes o During meiosis, chromosomes undergo segregation & independent assortment Linked Genes o During Thomas Morgan’s work with Drosophila, he recognized  Two genes located on same chromosome were linked; that is, inherited together  However, offspring phenotypes showed this wasn’t always true

VIII. CHROMOSOMAL BASIS OF INHERITANCE, cont Linked Genes, cont o In fruit flies, normal wild-type phenotype is gray body, normal wings – both genes are located on same chromosome  G = wild-type (gray) body; g = black body  W = wild-type wings; w = mutant wings o True-breeding wild type flies X true-breeding mutants o F 1 showed all o F 1 X test cross  Counted 2300 offspring  Should have counted

VIII. CHROMOSOMAL BASIS OF INHERITANCE, cont 965 GWgw944 gwgw206 Gwgw185 gWgw Morgan realized variation in probabilities due to

VIII. CHROMOSOMAL BASIS OF INHERITANCE, cont Linkage Maps o In crossing over, the further apart two genes are, the higher the probability that a crossover will occur between them and therefore, the higher the recombination frequency.

VIII. CHROMOSOMAL BASIS OF INHERITANCE, cont o Recombination Frequency = # recombinants__ X 100 total # offspring o One map unit = 1% recombination frequency …………………………………………………………………………………… GWgw944 gwgw206 Gwgw185 gWgw

VIII. CHROMOSOMAL BASIS OF INHERITANCE, cont The genes for vestigial wings, black body color, and cinnabar eyes are linked genes. In controlled crosses...  The gene for vestigial (vg) wings and body color (b) have a 17% crossover rate.  The gene for eye color (cn) and body color (b) have a 9% crossover rate.  The gene for eye color (cn) and vestigial wings (vg) have a 9 ½% crossover rate. Draw the chromosome.

IX. CHROMOSOMAL DISORDERS Alterations in Chromosome Number o Most commonly due to nondisjunction o Results in aneuploid gametes

IX. CHROMOSOMAL DISORDERS, cont

o Detected with karyotype o Examples  Down Syndrome

IX. CHROMOSOMAL DISORDERS, cont Turner Syndrome

IX. CHROMOSOMAL DISORDERS, cont Klinefelter Syndrome

IX. CHROMOSOMAL DISORDERS, cont

Cri du Chat – Caused by deletion in chromosome 5 Chronic Myelogenous Leukemia – Caused by reciprocal translocation. Large piece of chromosome 22 exchanges places with tip of chromosome 9. Resulting chromosome 22 easily recognizable; known as Philadelphia chromosome.