A novel Y chromosome microdeletion potentially associated with defective spermatogenesis identified by custom array comparative genome hybridization

REPRODUCTIVE BIOMEDICINE ONLINE

卷:34

Article

He, Tianwen^1,2  Zhang, Xiangzhong³  Deng, Hua⁴  Zhou, Weiping⁴  Zhao, Xin^1,2  Zhao, Hui^1,2  Lu, Jian^1,2  Zheng, Yichun⁵  Zhang, Changbin^1,2  Zhang, Liang⁴  Yin, Aihua^1,2 

[1] Guangdong Women & Children Hosp, Prenatal Diag Ctr, Guangzhou 511400, Guangdong, Peoples R China

[2] Guangdong Women & Children Hosp, Maternal & Children Metab Genet Key Lab, Guangzhou 511400, Guangdong, Peoples R China

[3] Sun Yat Sen Univ, Dept Hematol, Affiliated Hosp 3, Guangzhou 510630, Guangdong, Peoples R China

[4] Guangdong Women & Children Hosp, Translat Med Ctr, Guangzhou 511400, Guangdong, Peoples R China

[5] Guangdong Women & Children Hosp, Reprod Med Ctr, Guangzhou 511400, Guangdong, Peoples R China

关键词: array CGH;    deletion;    male infertility;    Y chromosome;   

DOI  :  10.1016/j.rbmo.2016.09.010

来源: Elsevier

【 摘 要 】

Male infertility is a major health problem worldwide. Oligospermia and azoospermia are the most common symptoms of this disorder. Despite recent advances, the aetiopathogenesis of defective spermatogenesis remains largely uncertain. The aim of this study is to discover unknown or novel chromosome aberrations associated with male reproductive failure. We developed a high-resolution custom array comparative genomic hybridization for initial screening of copy number variations in 10 patients with idiopathic oligozoospermia and azoospermia and eight normal fertile men. We found that deletions were mainly located in the deleted-in-azoospermia subregion and were confined to patients. More importantly, an interesting microdeletion of the Y chromosome designated as D01 was detected in four out of 10 patients with oligozoospermia and azoospermia. We validated this recurrent deletion in nine out of 100 additional infertile men using polymerase chain reaction assays, whereas, it was not present in 100 proven fertile controls (P = 0.002). Furthermore, a bioinformatics analysis demonstrated that the 5' terminal of D01 is situated proximal to several conserved transcription factor binding sites within the Y chromosome. Our study indicated that this newly identified Y chromosome deletion might be potentially associated with impaired spermatogenesis and it is worthy of further investigations in larger cohorts. (C) 2016 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.

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