Mutation rate in human microsatellites: influence of the structure and length of the tandem repeat

Article Abstract:

Mutation rates of different loci may differ by several orders of magnitude and different alleles at one locus show different rates of mutation based on research carried out to investigate meioses in one pentameric and eight tetrameric loci with an eye to influence of the length and structure of the tandem repeat. Studies related to microsatellites have been carried out for mutation events in eukaryotes, but data for humans have been lacking. In 10,844 parent/child allelic transfers at nine short-tandem-repeat (STR) loci, 23 isolated STR mismatches have been seen with a positive exponential correlation found between the geometric mean of the number of uninterrupted repeats and the mutation rate. Most of the variation at microsatellite loci seems to be from males.

Austria, Germany, Statistics, DNA, Mutation (Biology), Mutation, Heredity, Human, Human heredity

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Unraveling autism

Article Abstract:

A series of functional variants in the contactin associated protein-like 2 (CNTNAP2) gene that unequivocally implicate this gene as causing Type 1 autism in the general population is identified.

Science & research, Causes of, Genetic aspects, Autism

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