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.
Original language | English |
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Pages (from-to) | 261-2 |
Number of pages | 2 |
Journal | Nature Genetics |
Volume | 29 |
Issue number | 3 |
DOIs | |
Publication status | Published - 2001 |
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