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    Nat Genet. 2001 Nov;29(3):261-2.

    Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility.

    Source

    Ancobio Ltd, Glasgow, Scotland.

    Abstract

    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.

    PMID:
    11687794
    [PubMed - indexed for MEDLINE]

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