摘要
目的探讨Y染色体微缺失、性染色体核型异常与男性不育的关系。方法对721例不育男性患者行外周血染色体核型分析,并应用MLPA技术对其Y染色体微缺失进行分析。结果 721例外周血染色体核型分析发现性染色体异常35例,Y染色体微缺失患者192例,其中AZFc缺失112例,AZFc部分缺失部分重复39例,AZFc部分重复27例,AZFb和AZFc均部分缺失7例,AZFa部分缺失3例,AZFb部分重复和AZFc部分缺失4例。结论 AZFb和AZFc区上的基因不仅与精子发生有关,可能还与Y染色体稳定性有关。AZF微缺失和Y染色体核型异常可能会进一步降低精子发生,它们之间的相关性有待进一步的研究。
Objective：To explore the relationship between male infertility and microdeletion on Y chromosome as well as abnormalities of sexchromosomes. Methods：Chromosome karyotypes of peripheral blood from 721 male infertility patients were analyzed.Y chromosome microdeletions were detected using MLPA technology. Results：We found 35 abnormalities of sex chromosomes in those 721 male infertility patients. We found 192 cases who have Y chromosome microdeletions in those 721 male infertility patients. There are 112 cases wth AZFc deletions,39 cases with AZFc parts of repetition and deletion,27 cases with AZFc parts of repetition,7 cases with AZFb and AZFc parts of repetition and deletion,3 caseswith AZFa deletions,4cases with AZFb parts of repetition and AZFc parts of deletion. Conclusion：The genes in AZFb and AZFc are not only related to spermatogenesis,but also possibly related to Y chromosome stability. AZF microdeletions and Y chromosome karyotype abnormalities may further reduce the spermatogenesis. The correlations between them need to be further studied.
作者
王连
梁济慈
闫有圣
郝胜菊
WANG Lian LIANG Ji-ci YAN You-sheng HAO Sheng-ju(Gansu Maternal Child Health Care Hospital, Gansu, Lanzhou, 73005)
出处
《中国优生与遗传杂志》
2017年第4期83-84,共2页
Chinese Journal of Birth Health & Heredity
