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Trends Genet. 2001 Sep;17(9):502-10.

On the allelic spectrum of human disease.

Author information

1
The Whitehead Institute/MIT Center for Genome Research, Nine Cambidge Center, Cambridge, MA 02142, USA. reich@genome.wi.mit.edu

Abstract

Human disease genes show enormous variation in their allelic spectra; that is, in the number and population frequency of the disease-predisposing alleles at the loci. For some genes, there are a few predominant disease alleles. For others, there is a wide range of disease alleles, each relatively rare. The allelic spectrum is important: disease genes with only a few deleterious alleles can be more readily identified and are more amenable to clinical testing. Here, we weave together strands from the human mutation and population genetics literature to provide a framework for understanding and predicting the allelic spectra of disease genes. The theory does a reasonable job for diseases where the genetic etiology is well understood. It also has bearing on the Common Disease/Common Variants (CD/CV) hypothesis, predicting that at loci where the total frequency of disease alleles is not too small, disease loci will have relatively simple spectra.

PMID:
11525833
DOI:
10.1016/s0168-9525(01)02410-6
[Indexed for MEDLINE]

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