Analysis of the meiotic recombination gene REC8 for sequence variations in a population with severe male factor infertility
| Autor: | Douglas T. Carrell, Greg L. Christensen, Jeanine Griffin, Benjamin R. Emery |
|---|---|
| Rok vydání: | 2008 |
| Předmět: |
Infertility
Male Urology Population DNA Mutational Analysis Cell Cycle Proteins Biology MLH1 Severity of Illness Index White People Male infertility Exon Meiosis medicine Humans Genetic Predisposition to Disease Prospective Studies Allele education 3' Untranslated Regions Azoospermia Genetics Recombination Genetic education.field_of_study Polymorphism Genetic Exons Oligospermia medicine.disease Introns Phenotype Reproductive Medicine Case-Control Studies |
| Zdroj: | Systems biology in reproductive medicine. 54(3) |
| ISSN: | 1939-6368 |
| Popis: | Proper regulation of meiosis is essential for normal spermatogenesis and abnormalities may be associated with infertility, as shown in both animal knockout studies and studies identifying anomalies in key proteins, such as SCP3 and MLH1. Disruptions of meiosis are associated with azoospermia or severe oligozoospermia, and may increase the incidence of sperm aneuploidy in some men. Based on its function and animal studies, REC8, a key component of the meiotic cohesion complex, has been identified as a candidate male infertility gene. In this study, we have evaluated sequence variation in the REC8 gene of severely infertile men of European descent with azoospermia or severe oligozoospermia compared to a fertile control population. The direct sequencing of these populations revealed nine polymorphic sites, four within intron/exon boarders, four within coding exons and one in the three prime untranslated region. These sites did not show significantly different allelic frequencies in the study populations compared to fertile controls. This indicates that polymorphisms of the Rec 8 gene are not a common cause of infertility in this population. Additional studies are warranted in patients with defined meiotic disruption. |
| Databáze: | OpenAIRE |
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