GENETIC VARIATION AND PATTERNS OF INHERITANCE. SOURCES OF GENETIC VARIATION How siblings / families can be so different

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1 9/22/205 GENETIC VARIATION AND PATTERNS OF INHERITANCE SOURCES OF GENETIC VARIATION How siblings / families can be so different Independent orientation of chromosomes (metaphase I of meiosis) Random fertilization (2 n possibilities from each parent) Chiasma Sister chromatids Genetic recombination chromosomes mix during crossing over Tetrad CHIASMA site of crossing over. Each pair of homologous chromosomes 2 can have 3 crossing over events

2 9/22/205 ERRORS DURING MEIOSIS Nondisjunction in Meiosis I results in abnormal gametes Meiosis I Meiosis I Nondisjunction in Meiosis II results in 2 abnormal gametes Nondisjunction Normal meiosis I Meiosis II Meiosis II Normal meiosis II Nondisjunction Gametes with number of chromosomes n + n + n n Abnormal n + n Abnormal n n 3 Normal NONDISJUNCTION & BIRTH DEFECTS Abnormal numbers of chromosomes can affect offspring Trisomy having 3 chromosomes from parents rather than 2 Trisomy in autosomes affect survival Trisomy in sex chromosomes (X/Y) do not affect survival Klinefelter s syndrome XXY, XXXY Turner s syndrome XO Karyotype of a woman with trisomy 2 2

3 9/22/205 OTHER CHROMOSOME ERRORS Other errors during meiosis or damaging agents like radiation can cause chromosomes to break resulting in birth defects Deletion (fragment removed) Inversion (fragment removed and reattached out of order) Duplication (fragment added) Reciprocal translocation (swap w non-homologous chromosome Homologous chromosomes Nonhomologous chromosomes 5 GENETICS The scientific study of the transmission of traits from one generation to the next (heredity) Character Flower color Purple Traits White Flower position Gregor Mendel 66 Character heritable feature with variation (pea color) Trait variations of that character (yellow or green) Seed color Seed shape Pod shape Pod color Stem length Axial Yellow Round Inflated Green Terminal Green Wrinkled Constricted Yellow Tall Dwarf 6 3

4 9/22/205 MENDEL S EXPERIMENTS Stamen removal 2 Pollen transfer Let plants selffertilize until offspring were identical to parents true breeding Cross bred true individuals with different traits Parents (P) Offspring (F ) Carpel (eggs) 3 Stamens (sperm) Carpel matures into pod Seeds from pod planted 7 The Experiment P generation (true-breeding parents) Purple flowers White flowers F generation All plants have purple flowers Fertilization among F plants (F F ) F 2 generation 3 of plants have purple flowers of plants have white flowers

5 9/22/205 The Results P generation (true-breeding parents) P homozygous: Purple flowers Purple allele White flowers Whiteallele F generation F heterozygous: All plants have purple flowers Fertilization (F F ) F 2 generation Purple dominant White recessive 3 of plants have purple flowers of plants 9 have white flowers The Genetics Purple Homozygote PP White Homozygote pp Both Parents are homozygotes All F offspring will be Purple Heterozygotes One allele received from each parent P p P PP p pp F 2 offspring will be 3 dominate : recessive phenotype 0 5

6 9/22/205 PUNNET SQUARES Allow us to visualize possible gametes and offspring combinations Also allows us to think about the probability of offspring having a certain genotype or phenotype Purple phenotype ¾ = 75% chance White phenotype ¼ = 25% chance Egg from plant P p Sperm from plant P p PP pp INHERITANCE & PROBABILITY Patterns of inheritance can be explained by the rules of probability Probability of coin flip landing heads up = ½ P p Multiple probabilities of multiple events happening P PP ½ x ½ = ¼ ½ x ½ = ¼ Add probabilities of ways an event can happen. p ½ x ½ = ¼ ½ x ½ = ¼ Probability of white flower= ¼ = 25% Probability of purple flower= ¼ + ¼ + ¼ = ¾ = 75% 2 6

7 9/22/205 TESTCROSS Mating an unknown genotype with a homozygous recessive Testcrosses allow geneticists to determine the genotype of unknown individuals Why use a homozygous recessive? Testcross Genotypes Gametes What is the genotype of the black dog? B_? bb Two possibilities for the black dog: BB or Bb B B b b Bb b Bb bb Offspring All black black : chocolate 3 PEDIGREES Family trees that track traits of parents and children across generations Mating Pair Male Female st Generation Children (Siblings) 2nd Generation Unaffected Sibling Unaffected Siblings Unaffected Sibling 3nd Generation 7

8 9/22/205 KEY Female Male Widow s peak hairline trait Straight hairline trait H: widow s peak allele h: straight allele Al Beth ST GENERATION Charles Debbie 2ND GENERATION Evelyn Frank Gary Henry Isabel Juliana Straight hairline 3RD GENERATION Widow s peak Kristin Lori 5 DOMINANT VS RECESSIVE Does not refer to which is more common in populations Wild type vs. mutant refers to how common a gene is in populations Dominant Traits Recessive Traits It is more common to lack freckles Freckles No freckles Key Wild-type (more common) trait Mutant (less common) trait It is more common to have normal pigmentation Normal pigmentation Albinism 6

9 9/22/205 GENETIC DISORDERS Can be caused by dominant or recessive genes Recessive disorders result from homozygous recessive genotypes (aa) Most people with recessive disorders have unaffected heterozygous parents (Aa) who are carriers Dominant disorders are usually less harmful than recessive disorders Lethal dominant alleles do not usually persist in populations (exception: Huntington s Disease) 7 TECHNOLOGY & GENETIC DISORDERS Options for parents and future parents Genetic Testing are parents heterozygous carriers? Fetal Testing amniocentesis, chorionic villus sampling (CVS), alphafetoprotein (AFP) blood test Fetal Imaging ultrasound, transvaginal ultrasound, fetoscopy 9

10 9/22/205 GENE EXPRESSION Phenotypes can be affected by many genetic factors Incomplete Dominance phenotypes of heterozygotes differ from the two homozygous phenotypes (ex: snapdragons) Incomplete dominance Red RR White rr Pink Rr 9 MORE GENE EXPRESSION Codominance Both alleles expressed in heterozygous individuals (ex: blood type) 20 0

11 9/22/205 EVEN MORE GENE EXPRESSION Pleiotropy one gene affects many characteristics (ex: sickle cell anemia) YES. MORE GENE EXPRESSION P generation aabbcc (very light) AABBCC (very dark) F generation AaBbCc (medium shade) AaBbCc (medium shade) Polygenic Inheritance genes have additive effects on characteristic F 2 generation Eggs Sperm

12 9/22/205 ENVIRONMENT AND PHENOTYPES Factors other than genetics also play an important role in your phenotype SEX GENES SRY gene triggers testes development in human males (XY) 2 2

13 9/22/205 SEX LINKED GENES A gene located on a sex chromosome Queen Victoria Albert Alice Louis Alexandra Alexis Czar Nicholas II of Russia Female Male Hemophilia Carrier Normal 25 REQUIRED VIDEOS The core concepts of this material are fair game for exams! WHY DO BLOOD TYPES MATTER? See link on the course website:

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