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Y chromosome haplogroups may confer susceptibility to partial AZFc deletions and deletion effect on spermatogenesis impairment
- Source :
- Human Reproduction. 23:2167-2172
- Publication Year :
- 2008
- Publisher :
- Oxford University Press (OUP), 2008.
-
Abstract
- BACKGROUND: Partial AZFc deletions related to testis-specific gene families are common mutations of the Y chromosome, but their contribution to spermatogenic impairment is still unresolved, and the risk factors for the formation of the deletions remain unknown. With this in mind, we investigated the possible association between Y chromosome haplogroups and predisposition to partial AZFc deletions and their effect on spermatogenesis in a Chinese population. METHODS: The haplogrouping was carried out using 12 polymorphic loci on the Y chromosome in 269 non-AZFc-deleted controls with an unknown spermatogenic status and 214 men with a partial AZFc deletion defined by the absence of the sequence-tagged site and sequence family variant loss of the DAZ and CDY1 genes. In the latter group, 57 men had normozoospermia and 157 men had azoo/oligozoospermia. Among these, 122 had a de novo partial AZFc deletion. RESULTS: Y haplogroup distribution differed significantly between men with a de novo partial AZFc deletion and the control group, and between men with a specific subtype of the partial AZFc deletions and the control group. Further, partial AZFc deletions gave rise to spermatogenesis impairment in some Y haplogroups. CONCLUSIONS: The findings indicate that some monophyletic Y chromosomes may be associated with predisposition to specific subtypes of partial AZFc deletion and adverse effect on spermatogenesis. Although these deletions were not confirmed with gene dosage analysis, the results suggest that Y chromosome background is an important factor that affects partial AZFc deletion formation and its contribution to spermatogenic failure.
- Subjects :
- Male
China
Human Y-chromosome DNA haplogroup
Biology
Y chromosome
Gene dosage
Haplogroup
medicine
Humans
Spermatogenesis
Gene
Phylogeny
Azoospermia
Genetics
Chromosomes, Human, Y
Polymorphism, Genetic
Rehabilitation
Haplotype
Seminal Plasma Proteins
Obstetrics and Gynecology
Oligospermia
medicine.disease
Haplotypes
Reproductive Medicine
Genetic Loci
Gene Deletion
Subjects
Details
- ISSN :
- 14602350 and 02681161
- Volume :
- 23
- Database :
- OpenAIRE
- Journal :
- Human Reproduction
- Accession number :
- edsair.doi.dedup.....91a50ef5ff239b57fafe1302d94d4acb