Chapter 4: Mendelian Inheritance

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Chapter 4: Mendelian Inheritance List four ways that monogenic diseases differ from other types of diseases. - ✔✔- controlled by only one gene - potentially fixable - we can deduce probability ... base on relatives - predictable with genetic testing Distinguish between a homozygous and a heterozygote; dominant and recessive. - ✔✔Homozygous: two of the same allele Heterozygous: one of each allele Dominant: only one copy needed to express a trait Recessive: two copies needed to express a trait Describe Mendel's pea plant experiment. - ✔✔- observed pea plants that exhibited either or traits (height, flower color) - purple or white flowers, tall (dominant) or short (recessive) What is the genotype ratio of a monohybrid cross? - ✔✔1:2:1 Segregation - ✔✔When homologous chromosomes separate in meiosis I What is the phenotypic ratio of a monohybrid cross? - ✔✔3:1 List some dominant and recessive traits in pea plants. - ✔✔Seed Form: round (dominant), wrinkled (recessive) Seed Color: yellow (dominant), green (recessive) Pod Form: inflated (dominant), restricted (recessive) Pod Color: green (dominant), yellow (recessive) Flower Position: along the stem (dominant), on top (recessive) Seed Coat Color: gray or brown (dominant), white (recessive) Stem Length: tall (dominant), short (recessive) Define test cross. - ✔✔- figuring out the genotype of an individual with a dominant phenotype - cross the individual with a homozygous recessive individual Explain how humans inherit eye color. - ✔✔- polygenic - OCA2: homo. recessive (blue), homo. dominant & hetero. (brown)) - HERC2 homo. recessive (blue) Define mode of inheritance. - ✔✔Autosomal Dominant: - males and females affected equally - successive generations affected until no one inherits the mutation - affected individual has an affected parent, unless he or she has a de novo mutation Autosomal Recessive: - males and females affected equally - can skip generations - affected individual has parents who are affected or are carriers (heterozygotes) X linked: - passed on the X chromosome What is the effect of people having children with their relatives on inherited trait transmission. - ✔✔Not good Makes recessive/mutations more likely How are Mendel's first law and logic used to solve genetics problems? - ✔✔Punnett Squares Explain how recessive traits or illnesses can result from a loss-of-function, whereas dominant traits can result from a gain-of-function. - ✔✔Dominant mutations usually add something whereas recessive mutations usually result in the loss of something State Mendel's Second Law. - ✔✔Independent assortmenet Medel's Second Law - ✔✔as long as different pairs of genes are located on different homologous chromos, the genes will separate out into different gametes (INDEPENDENT ASSORTMENT) Mendel's Law of Segregation - ✔✔the two copies of a gene segregate from each other during transmission from parent to offspring Explain how Mendel demonstrated that genes on different chromosomes independently assort. - ✔✔- dihybrid cross - color and shape of pea plants seeds Dihybrid Cross - ✔✔Cross or mating between organisms involving two pairs of contrasting traits How are Punnett squares and probability used to follow inheritance of more than one trait? - ✔✔The product rule What information does a pedigree provide? - ✔✔Family relationships as well as how traits are distributed. Explain how exome and genome sequencing can be used to distinguish autosomal recessive inheritance in a "parents-child trio" from a new dominant mutation affecting the child. - ✔✔- 2 unaffected parents - affected child - heterozygous carriers or de novo mutation? (genome and exome sequencing to find out) [Show More]

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