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Mutation rate estimation for 15 autosomal STR loci in a large population from Mainland China.


ABSTRACT: STR, short tandem repeats, are well known as a type of powerful genetic marker and widely used in studying human population genetics. Compared with the conventional genetic markers, the mutation rate of STR is higher. Additionally, the mutations of STR loci do not lead to genetic inconsistencies between the genotypes of parents and children; therefore, the analysis of STR mutation is more suited to assess the population mutation. In this study, we focused on 15 autosomal STR loci. DNA samples from a total of 42,416 unrelated healthy individuals (19,037 trios) from the population of Mainland China collected between Jan 2012 and May 2014 were successfully investigated. In our study, the allele frequencies, paternal mutation rates, maternal mutation rates and average mutation rates were detec

SUBMITTER: Zhao Z 

PROVIDER: S-EPMC4532769 | biostudies-literature | 2015 Sep

REPOSITORIES: biostudies-literature