Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility
- 22 October 2001
- journal article
- research article
- Published by Springer Nature in Nature Genetics
- Vol. 29 (3) , 261-262
- https://doi.org/10.1038/ng759
Abstract
Human mitochondrial DNA polymerase, encoded by POLG, contains a polyglutamine tract encoded by a CAG microsatellite repeat1,2. 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.Keywords
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