染色体核型分析对男性不育诊疗与捐精筛查的意义  

Significance of analysis of karyotype of chromosome in diagnosis and treatment of male infertility and screening in sperm donors

作　　者：汪小波[1,2,3] 胡洪亮[1,2,3] 刘勇[1,2,3] 曹小蓉[1,2,3] 朱勇[1,2,3] 王建华[1,2,3] 李铮[1,2,3] 

机构地区：[1]上海交通大学医学院附属仁济医院泌尿外科 [2]上海市男科学研究所精子发育与遗传学实验室 [3]上海市人类精子库,上海200001

出　　处：《上海交通大学学报（医学版）》2012年第8期968-972,共5页Journal of Shanghai Jiao tong University:Medical Science

基　　金：国家重点基础研究发展计划("九七三"计划)(2011CB944504);上海市科委重大科研基金(10JC1409900)~~

摘　　要：目的对不育患者和捐精志愿者进行染色体核型分析,探讨其临床意义。方法对967例不育患者(不育组)和3 184例精液初筛合格的捐精志愿者(捐精组)进行染色体核型分析,比较两组异常核型发生率和异常核型构成情况。结果不育组异常核型发生率显著高于捐精组(14.06%和3.39%,P<0.01)。不育组主要异常核型为非多态性变异,其发生率显著高于捐精组(9.62%和0.25%,P<0.05);捐精组主要异常核型为多态性变异,其发生率与不育组比较差异无统计学意义(3.14%和4.44%,P>0.05)。不育组另发现2例世界首次报道核型,分别为46,XY,t(3;12)(p23;q24)和46,XY,inv(20)(p13;q13.1)。结论染色体非多态性变异是导致男性不育的重要原因之一,对不育患者和捐精志愿者进行染色体核型分析利于优生优育。Objective To analyse karyotype of chromosome in patients with infertility and sperm donors, and explore its clinical significance. Methods A total of 967 infertile patients （infertility group） and 3 184 semen donors （donor group） were selected for analysis of karyotype of chromosome, and the incidence and types of abnormal karyotypes were compared between two groups. Results The incidence of abnormal karyotypes in infertility group was significantly higher than that in donor group （14.06% vs 3.39%, P 〈 0.01）. The main type of abnormal karyotype in infertility group was non- polymorphic chromosomal abnormalities, whose incidence was significantly higher than that in donor group （9.62% vs 0.25%, P 〈 0.05）. The main type of abnormal karyotype in donor group was polymorphic chromosomal abnormalities, whose incidence was not significantly different from that in infertility group （3.14% vs 4.44%, P 〉0.05）. Besides, two abnormal karyotypes [46, XY, t（3; 12） （p23; q24） and 46, XY, inv（20） （p13; q13. 1）] were first reported worldwide in infertility group. Conclusion Chromosome non-polymorphism abnormalities is one of the major causes for male infertility, and karyotype analysis for infertile patients and sperm donors is of great significance to reduce birth defects.

关 键 词：染色体核型分析 捐精志愿者 辅助生殖技术 出生缺陷 

分 类 号：R698.2[医药卫生—泌尿科学]