The prevalence of azoospermia factor microdeletion on the Y chromosome of Chinese infertile men detected by multi-analyte suspension array technology.
OBJECTIVE
To develop a high-throughput multiplex, fast and simple assay to scan azoospermia factor (AZF) region microdeletions on the Y chromosome and establish the prevalence of Y chromosomal microdeletions in Chinese infertile males with azoospermia or oligozoospermia.


METHODS
In total, 178 infertile patients with azoospermia (non-obstructed), 134 infertile patients with oligozoospermia as well as 40 fertile man controls were included in the present study. The samples were screened for AZF microdeletion using optimized multi-analyte suspension array (MASA) technology.


RESULTS
Of the 312 patients, 36 (11.5%) were found to have deletions in the AZF region. The microdeletion frequency was 14% (25/178) in the azoospermia group and 8.2% (11/134) in the oligospermia group. Among 36 patients with microdeletions, 19 had deletions in the AZFc region, seven had deletions in AZFa and six had deletions in AZFb. In addition, four patients had both AZFb and AZFc deletions. No deletion in the AZF region was found in the 40 fertile controls.


CONCLUSIONS
There is a high prevalence of Y chromosomal microdeletions in Chinese infertile males with azoospermia or oligozoospermia. The MASA technology, which has been established in the present study, provides a sensitive and high-throughput method for detecting the deletion of the Y chromosome. And the results suggest that genetic screening should be advised to infertile men before starting assisted reproductive treatments.
Zhu
Yi-Jian
YJ
Institute of Medical Genetics, College of Life Science, Sichuan University, Chengdu 610064, China.
Liu
Si-Yao
SY
Wang
Huan
H
Wei
Ping
P
Ding
Xian-Ping
XP
D000328:Adult; D053713:Azoospermia / Q000453:epidemiology* / Q000235:genetics*; D002681:China / Q000453:epidemiology; D041322:Chromosomes, Human, Y / Q000235:genetics* / Q000648:ultrastructure*; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D005260:Female; D017353:Gene Deletion; D056426:Genetic Loci; D005987:Glyceraldehyde-3-Phosphate Dehydrogenases / Q000235:genetics; D006801:Humans; D017403:In Situ Hybridization; D007248:Infertility, Male / Q000453:epidemiology* / Q000235:genetics*; D008297:Male; D015345:Oligonucleotide Probes; D009845:Oligospermia / Q000453:epidemiology / Q000235:genetics / Q000378:metabolism; D040081:Protein Array Analysis; D015203:Reproducibility of Results; D020133:Reverse Transcriptase Polymerase Chain Reaction; D029589:Seminal Plasma Proteins / Q000235:genetics*
D015345:Oligonucleotide Probes; D029589:Seminal Plasma Proteins; D004247:DNA; D005987:Glyceraldehyde-3-Phosphate Dehydrogenases