New answers tagged human-genetics
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Re:
I have read online that a recessive mutation is one in which both
alleles must be mutant in order for the mutant phenotype of be
observed.
Perhaps it's better to think of it as "all" rather than "both", as sometimes there are 3 or more alleles, and sometimes only one. When the authors write
does not unmask a recessive mutation in ...
1
You're reading too much into the authors statement.
The authors simply claim they have no evidence for any mutations in the working copies of the genes, and therefore not even preliminary evidence for a recessive mutation.
You're right that if they had found mutations in either gene, this wouldn't be sufficient evidence to conclude the translocation unmasks ...
6
Sex-linkage would be the canonical example.
In other words, people with phenotypically male or female sex characteristics have non-random genetic predilections towards specific X-linked traits such as hemophilia, color-blindness, Duchenne dystrophy, etc.
However, other classic examples would include linkage between blood group antigens and peptic ulcers.
For ...
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I think that this question cannot be quantitatively answered, because the baseline "non-disease" state is not well defined.
Let's take as a starting point the example that you gave, of sickle cell disease. It turns out there is not actually a single mutation that can lead to the disease, but a number of different mutations. A person with only one ...
1
Both Prader-Willi and Angelman syndrome can also occur as a result of having both members of the chromosome 15 pair derived from 1 parent, a condition known as uniparental disomy. Both can also result from a structural abnormality of the imprinting center, known as an imprinting mutation. In addition, Angelman syndrome can be caused by a mutation in the gene ...
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