AZFc Deletions and Spermatogenic Failure: A Population-Based Survey of 20,000 Y Chromosomes
نویسندگان
چکیده
منابع مشابه
AZFc deletions and spermatogenic failure: a population-based survey of 20,000 Y chromosomes.
Deletions involving the Y chromosome's AZFc region are the most common known genetic cause of severe spermatogenic failure (SSF). Six recurrent interstitial deletions affecting the region have been reported, but their population genetics are largely unexplored. We assessed the deletions' prevalence in 20,884 men in five populations and found four of the six deletions (presented here in descendi...
متن کاملMolecular Study of Partial Deletions of AZFc Region of the Y Chromosome in Infertile Men
Background & Aims: The most significant cause of infertility in men is the genetic deletion in the azoospermia factor (AZF) region that is caused by the process of intra- and inter-chromosomal homologous recombination in amplicons. Homologous recombination could also result in partial deletions in AZF region. The aim of this research was to determine the association between the partial AZFc del...
متن کاملAssociation of partial AZFc region deletions with spermatogenic impairment and male infertility.
BACKGROUND Complete deletions of the AZFc region in distal Yq are the most frequent molecular genetic cause of severe male infertility. They are caused by intrachromosomal homologous recombination between amplicons--large, nearly identical repeats--and are found in 5-10% of cases of azoospermia and severe oligozoospermia. Homologous recombination may also generate different partial deletions of...
متن کاملY chromosome haplogroups may confer susceptibility to partial AZFc deletions and deletion effect on spermatogenesis impairment.
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 deletion...
متن کاملRecombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure.
It is widely believed that at least three nonoverlapping regions of the human Y chromosome-AZFa, AZFb, and AZFc ("azoospermia factors" a, b, and c)-are essential for normal spermatogenesis. These intervals are defined by interstitial Y-chromosome deletions that impair or extinguish spermatogenesis. Deletion breakpoints, mechanisms, and lengths, as well as inventories of affected genes, have bee...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2012
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2012.09.003