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MCB 10 Lecture Notes - Lecture 6: Myopathy, Gamete, Genetic Linkage

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12 Oct 2016

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Molecular and Cellular Biology

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Document Summary

Epistasis: the phenomenon where one gene affects the expression of a second gene, ex: bombay phenotype. The h gene is epistatic to the i gene. H protein places a molecule at the cell surface to which the a or b antigens are attached. Without h protein the a or b antigens cannot be attached to the surface of the rbc. All hh genotypes have the phenotype of type o, although the abo blood. Pleiotropy: phenomenon where one gene controls several functions or has more than one effect, example: porphyria variegate. Affected several members of european royal families including king. Varied illness and quirks appeared to be different unrelated disorders. Genetic heterogeneity: different genes produce identical phenotypes. Osteogenesis imperfects (brittle bone disease): at least two different genes involved. Alzheimer"s disease: at least four different genes involved: genes may encode enzymes that catalyze the same biochemical pathway or different proteins that are part of the same pathway.

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Related Questions

Match the following definitions with the correct term. (We have not yet cover all of them in class, but you can find them in your reading.)

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A single mutation affects several traits.

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The frequency with which individuals of a given genotype manifest the mutant phenotype.

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A phenotypic trait whose expression depends on the additive effect of a number of genes.

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Expression of a gene is dependent on whether it has been inherited from the male or female parent.

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Phenotypic effects on the offspring produced by the maternal genome.

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Genetic information transmitted by chloroplasts or mitochondria.

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The degree in which a phenotype for a given trait is expressed.

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Determines whether two mutations are at the same locus or different loci.

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Genetic differences that are due to alterations of the DNA that do not included changes in base sequence.

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Characteristic determined by a gene on a sex chromosome.

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Characteristic encoded on an autosome that is more readily expressed in one sex.

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A gene at one locus that masks or suppresses the effect of a gene at a different locus.

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pleiotropy

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cytoplasmic inheritance

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epigenetics

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polygeneic inheritance

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imprinting

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sex-influenced trait

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sex-linked trait

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penetrance

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expressivity

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maternal effect

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complementation test

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epistasis