The association between the two more common genetic causes of spermatogenic failure:a 7-year retrospective study  

作　　者：Hong-Ge Li Li-Hong Fan Bei Liu Ye-Qing Qian Min Chen Yi-Xi Sun Min-Yue Dong 

机构地区：[1]Women's Hospital,School of Medicine,Zhejiang University,Hangzhou 310006,China

出　　处：《Asian Journal of Andrology》2020年第6期642-648,共7页亚洲男性学杂志（英文版）

基　　金：We should like to thank our patients for agreeing to donate their personal data and allowing the data to be published.We are grateful to Dr.Jiong Gao(BGI Genomics,BGI-Shenzhen,Shenzhen,China)for improving the article.The study was funded by the National Key Research and Development Program of China(Grant No.2018YFC1004903,and 2016YFC1000703);Key Research and Development Program of Zhejiang Province(Grant No.2019C03025);the National Nature Science Foundation of China(Grant No.81801441);and Zhejiang Provincial Natural Science Foundation of China(Grant No.LQ19H090019).

摘　　要：Chromosomal abnormalities and Y chromosome microdeletions are considered to be the two more common genetic causes of spermatogenic failure.However,the relati on ship between chromosomal aberrations and Y chromosome microdeletio ns is still un clear.This study was to investigate the incidenee and characteristics of chromosomal aberrations and Y chromosome microdeletions in infertile men,and to explore whether there was a correlation between the two genetic defects of spermatogenic failure.A 7-year retrospective study was conducted on 5465 infertile men with nonobstructive azoospermia or oligozoospermia.Karyotype analysis of peripheral blood lymphocytes was performed by standard G-banding techniques.Y chromosome microdeletions were screened by multiplex PCR amplification with six specific sequence-tagged site(STS)markers.Among the 5465 infertile men analyzed,371(6.8%)had Y chromosome microdeletions and the prevalence of microdeletions in azoospermia was 10.5%(259/2474)and in severe oligozoospermia was 6.3%(107/1705).A total of 4003(73.2%)infertile men underwent karyotyping;370(9.2%)had chromosomal abnormalities and 222(5.5%)had chromosomal polymorphisms.Karyotype analysis was performed on 272(73.3%)patients with Y chromosome microdeletions and 77(28.3%)had chromosomal aberrations,all of which involved sex chromosomes but not autosomes.There was a sign ifica nt d iff ere nee in the frequency of chromosomal abno rmalities betwee n men with and without Y chromosome microdeletions(P<0.05).

关 键 词：azoospermia factor chromosomal aberrations infertile men nonobstructive azoospermia and oligozoospermia spermatogenic failure Y chromosome microdeletions 

分 类 号：R698.2[医药卫生—泌尿科学]