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Human mitochondrial DNA polymerase, encoded by POLG, contains a polyglutamine tract encoded by a CAG microsatellite repeat. Analysis of POLG genotypes in different populations identified an association between absence of the common, ten-repeat allele and male infertility typified by a range of sperm quality defects but excluding azoospermia.

Original publication

DOI

10.1038/ng759

Type

Journal article

Journal

Nat Genet

Publication Date

11/2001

Volume

29

Pages

261 - 262

Keywords

Alleles, Asian Continental Ancestry Group, DNA, Mitochondrial, DNA-Directed DNA Polymerase, European Continental Ancestry Group, Genetic Predisposition to Disease, Homozygote, Humans, Infertility, Male, Male, Microsatellite Repeats, Mutation, Peptides, Phenotype, Spermatozoa