不育男性染色体异常和Y染色体微缺失的相关性研究

Correlation between chromosome abnormality and Y chromosome microdeletion in infertile men

目的探究不育男性染色体异常和Y染色体微缺失的相关性。方法选取我院2015年1月至2016年12月诊治的40例无精子患者、40例少精或弱精子患者及40例健康体检者为研究对象,分别为无精子症组、少弱精子症组和对照组。比较三组染色体异常情况,同时分析染色体微缺失现象。结果无精子症组患者的染色体异常率明显高于少弱精子症组及对照组(P<0.05);少弱精子症组与对照组染色体异常率比较,差异不显著(P>0.05)。无精子症患者中,AZFb、AZFc及AZFc+AZFb缺失的发生率分别为2.5%、5.0%及2.5%,但不同Y染色体微缺失点位发生率比较,差异不显著(P>0.05)。结论相比健康男性与少精或弱精子患者,无精子患者的染色体异常和Y染色体微缺失情况明显,在辅助技术帮助患者受孕前,建议先进行染色体异常和Y染色体微缺失的检测,便于按照其实际情况制定干预方案,降低将染色体异常和Y染色体微缺失遗传给后代的几率。

Objective To explore the relalionship between chromosomal abnormality and Y chromosome microdelelion in infertile men. Methods From January 2015 lo December 2016, 40 azoospermia palienls were selected as the azoospermia group, 40 palienls with oligospermia or aslhenospermia were selected as the oligospermia or aslhenospermia group, and 40 healthy persons were selected as lhe control group. The chromosomal abnormality were compared among lhe three groups, and lhe Y chromosome microdelelion was analyzed. Results The incidence of chromosomal abnormality in lhe azoospermia group was significantly higher than lhal in lhe oligospermia or aslhenospermia group and lhe control group （ P〈0.05）; there was no significant difference between lhe oligospermia or aslhenospermia group and lhe control group （ P 〉0.05）. In lhe azoospermia group, lhe microdelelion rales of AZFb, AZFc and AZFc＋AZFb were 2.5%, 5.0% and 2.5% respectively, bul there were no significant differences among different Y chromosome microdelelion sites （ P〉0.05）. Conclusion Compared with healthy male and palienls with oligospermia or aslhenospermia, azoospermia palienls have obvious chromosomal abnormality and Y chromosome microdelelion. The chromosomal abnormality and Y chromosome microdelelion decleclions are necessary before palienls accepting assistive technology lo conceive, so as lo make intervention plan according lo lhe actual situation and reduce lhe rale of lhe chromosomal abnormality and Y chromosome microdelelion in lheir offsprings.