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Genetic Problem!!!! help!!!! please?
type I collagen fibrils are used as the reinforcing rods in construction of bone. The three chains that comprise the triple helix of type I collagen contain two identical chains, named a1, and one a2 chain. Certain mutations in the a1(I) or a2(I) genes lead to osteogenesis imperfecta, (brittle-bone disease).
so assuming a heterozygote expresses one wild-type and one mutant α chain of type I collagen, calculate the percent of the collagen molecules that will have an abnormality if this mutation is each of the following:
(i) a1 chain
(ii) a2 chain
I am not sure if the answer of (i) is 100% and (ii) is 50%
The answer to this question depends on two things: 1) whether or not both genes are expressed in each cell and 2) where the collagen is assembled. If you assume that both collagen alpha 1 genes are expressed in the same cell and that the collagen is assembled in the presence of both protein strands, then in the case of a heterozygote for alpha 1, the heterozygote would have 2 alleles and make 2 proteins, let's call them alpha 1 (normal) and alpha 1x (mutant). So, the cell would assemble collagen (assuming random assortment of the proteins):
25% alpha 1/alpha 1
25% alpha 1/alpha 1x
25% alpha 1x/alpha 1
25% alpha 1x/alpha 1x
So, in (i), the number of mutant type 1 collagens would be 75% (assuming that you consider the alpha 1/alpha 1x to have a mutant phenotype).
One caveat, obviously if the mutation prevented the cell from making one of the alpha 1 chains, then all the chains produced would contain normal alpha 1, just the amount of chains produced would be reduced.
In the case of (ii), as you said, you would expect a 50/50 ratio:
50% a2
50% a2x
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