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

Author

Rovio, Anja T., Marchington, David R., Donat, Susanne, Schuppe, Hans-Christian, Abel, Josef, Fritsche, Ellen, Elliott, David J., Laippala, Pekka, Ahola, Arja L., McNay, David, Harrison, Robert F., Hughes, Barbara, Barrett, Thomas, Bailey, David M.D., Mehmet, Denise, Jequier, Anne M., Hargreave, Tim B., Kao, Shu-Huei, and Cummins, James M.

Subjects
MITOCHONDRIAL DNA, DNA polymerases, MICROSATELLITE repeats
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, tenrepeat allele and male infertility typified by a range of sperm quality defects but excluding azoospermia. [ABSTRACT FROM AUTHOR]

Published
2001
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