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PMID 15520024
Gene Name DAZL
Condition Male infertility, oligozoospermia, azoospermia
Association Not Associated
Mutation DAZL (SNP 260, SNP 386)
Population size 367
Population details 367 (165 normozoospermic men, 202 oligo- or azoospermic patients)
Sex Male
Infertility type Male infertility
Associated genes DAZL
Other associated phenotypes Male infertility, oligozoospermia, azoospermia


No association of the A260G and A386G DAZL single nucleotide polymorphisms with male infertility in a Caucasian population

Tschanter P, Kostova E, Luetjens CM, Cooper TG, Nieschlag E, Gromoll J.

BACKGROUND: The human DAZ gene family includes two autosomal genes, BOULE and DAZL, and a Y-chromosomal DAZ gene cluster. All are RNA-binding proteins and assumed to be master regulators of germline gene expression. We have investigated the impact of two DAZL polymorphisms, located at nucleotide positions 260 (SNP 260) and 386 (SNP 386), on the fertility of Caucasian men. These single nucleotide polymorphisms (SNPs) have been described previously to be associated with spermatogenic failure. METHODS: Blood samples were collected and genomic DNA was extracted from 165 normozoospermic men and 202 oligo- or azoospermic patients, of whom 28 displayed an AZFc deletion. The frequencies of A or G allelic variants in SNP 260 and 386 were analysed via TaqMan allelic discrimination assays. In both cases, the A to G transition leads to a threonine to alanine change. RESULTS: A total of 24.2% of the controls showed a heterozygous nucleotide variant (AG) for the SNP 260 and the remaining 75.8% were homozygous for A. In the AZFc-deleted group, this distribution was significantly different, with 39.3% for AG, 57.1% for AA and 3.6% for GG. However, the increased heterozygosity was not correlated with sperm counts and morphology. The patients without deletions displayed a similar allelic pattern to the controls (24.1% AG/75.9% AA). For SNP 386, only the AA nucleotide variant was found in all subjects studied and in no case was the previously described heterozygous AG variant found. CONCLUSION: In a selected Caucasian population, the DAZL SNP 386 is completely absent and SNP 260 is not associated with spermatogenic failure and therefore does not represent a molecular marker for genetic diagnosis of male infertility. FAU - Tschanter, Petra AU - Tschanter P AD - Institute of Reproductive Medicine of the University, Domagkstrasse 11, D-48129 Münster, Germany. FAU - Kostova, Elena AU - Kostova E FAU - Luetjens, C Marc AU - Luetjens CM FAU - Cooper, Trevor G AU - Cooper TG FAU - Nieschlag, Eberhard AU - Nieschlag E