[Breakpoint localization of Y-chromosome massive deletions in 49 spermatogenesis dysfunction patients].
OBJECTIVE
To analyze the characteristics of azoospermia factor(AZF) deletions in Y-chromosome.


METHODS
Based on the AZF microdeletion screening on 272 cases of azoospermia and 240 cases of severe oligozoo spermia, 49 cases were investigated using 23 sequence-tagged sites (STS) in AZFa, AZFb and AZFc. For some cases, single nucleotide rarians (SNV) method was applied to identify the single nucleotide polymorphism (SNPs) in four DAZ gene copies and to determine the copy number of the DAZ gene.


RESULTS
In 6 cases with deletions of AZFb+c, there was 1 case with sY98/sY1206 deletion, 4 cases with P5/distal-P1 recombination and 1 with P4/distal-P1 recombination. In 3 cases with deletions in AZFb, 1 case showed P5/P3 deletion and 2 cases showed P5/proximal-P1 recombination with DAZ1 and DAZ2 deletions. b2/b4 recombination was observed in all the 40 cases with deletions in AZFc. A fraction of patients with AZFb and AZFb+c deletions showed oligospermia and spermatogenic failure by testicular biopsy.


CONCLUSIONS
Breakpoint localization of deletions in AZF regions may help elucidating the mechanisms of microdeletions, and analysis of the characteristics and quantity of deleted genes essential for normal spermatogenesis may evaluate the association of phenotype with spermatogenic failure.
Tu
Xiangdong
X
PLA Center for Laboratory Medicine, Fuzhou General Hospital of Nanjing Military Region, Fuzhou, Fujian, 350025 PR China. tuxdmed@126.com
Cong
Xuewen
X
Yan
Aihen
A
Zeng
Jian
J
Zhu
Zhongyong
Z
D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics*; D000075364:Deleted in Azoospermia 1 Protein; D018628:Gene Dosage; D056426:Genetic Loci; D006801:Humans; D008297:Male; D009845:Oligospermia / Q000235:genetics* / Q000503:physiopathology; D016601:RNA-Binding Proteins / Q000235:genetics; D029589:Seminal Plasma Proteins / Q000235:genetics; D013091:Spermatogenesis
C095668:DAZ1 protein, human; D000075364:Deleted in Azoospermia 1 Protein; D016601:RNA-Binding Proteins; D029589:Seminal Plasma Proteins