• PMID: 11779593
• Gene Name: DAZ1
• Condition: Subfertile and Infertile men
• Association: The study suggest that a dose effect of DAZ genes is possible responsible for phenotypic differences between patients with different deletions
• Mutation: Translocation on XY chromosome, deletion in the AZF b, c region
• Population size: 139
• Population details: 139 male factor subfertility and infertility
• Sex: Male
• Infertility type: Male infertility
• Associated genes: DAZ2, DAZ4, DAZ3
• Other associated phenotypes: Azoospermia, Oligospermia, asthenozoospermia, teratozoospermia

Reduced copy number of DAZ genes in subfertile and infertile men

de Vries JW, Hoffer MJ, Repping S, Hoovers JM, Leschot NJ, van der Veen F.

OBJECTIVE(S): To determine the copy number and identity of the DAZ genes on the Y chromosomes of infertile patients. DESIGN: Prospective study. SETTING: University medical center. PATIENT(S): One hundred and thirty-nine patients with male factor infertility. INTERVENTION(S): The separate genes were detected by polymerase chain reaction (PCR) digestion assays of sequence family variants in leukocyte DNA and by fluorescence in situ hybridization of interphase nuclei and chromatin fibers. MAIN OUTCOME MEASURE(S): Number of DAZ genes present. RESULT(S): One hundred twenty-nine patients had four genes, 6 patients had two genes, and 4 patients had none. Three patients had a deletion of the two proximal DAZ genes, and three were missing both distal genes. Semen analysis showed a less severe phenotype in patients with only two DAZ genes compared with patients missing all four genes. CONCLUSION(S): In six patients, two different partial deletions were found that were not detected by PCR with conventional markers. One patient with an AZFb deletion appeared to also have a partial AZFc deletion that was not detected by routine PCR. Phenotypic differences between patients with different deletions suggest a dose effect of the DAZ genes. FAU - de Vries, Jan W A AU - de Vries JW AD - Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Academic Medical Center, Amsterdam, The Netherlands. J.W.devries@amc.uva.nl FAU - Hoffer, Mariëtte J V AU - Hoffer MJ FAU - Repping, Sjoerd AU - Repping S FAU - Hoovers, Jan M N AU - Hoovers JM FAU - Leschot, Nico J AU - Leschot NJ