Y染色体小于22号染色体患者AZF微缺失分析

目的观察Y染色体≤22号染色体患者Y染色体微缺失的发生情况。方法本实验对象为47例Y染色体≤22号染色体患者,其中A组精子密度10×106/ml共12例,B组精子密度≥10×106/ml共35例,采用多重聚合酶链反应技术对其进行Y染色体微缺失15个序列标签位点进行检测。结果47例患者中共有4例发现微缺失,缺失率为8.51%;4例均为A组中发现,A组AZF总缺失率为33.33%,AZFa区缺失率为0%,AZFb区缺失率为25%,AZFc区及d区的缺失率均为33.33%,其中3例在无精子症中,缺失率为60%,1例在严重少精子症中,缺失率为14.29%;B组未发现微缺失,缺失率为0%。结论对于Y染色体≤22号染色体的男性,精子密度≥10×106/ml者AZF微缺失发生率很低;而无精子或严重少精子者,则有发生AZF微缺失的风险,尤其无精子症患者发生AZF多区域的联合缺失的风险显著增加。

Study of azoospermia factor microdeletions in the patients whose Y chromosome are shorter than 22 chromosome

Objective：To observe the microdeletions of azoospermia factor on Y chromosome in the patients whose Y chromosome is shorter than 22 chromosome. Methods：The subjects of this study are 47 patients with Y chromosome≤22 chromosome. It included 12 cases of A group which sperm concentration is 〈10×10^6/ml and 35 cases of B group which sperm concentration is ≥10×10^6/ml. By multiplex PCR technique,an analysis of 15 sequence tag sites was performed. Results：In the total 47 cases,4 cases show AZF microdeletions,the deletion rate is 8.51%;All the 4 cases have been found in A group,the total deletion rate is 33.33%,the prevalence rates of microdeletion in AZFa,AZFb,AZFc and AZFd are 0%,25%,33.33% and 33.33% respectively. 3 of the 4 microdeletion cases are azoospermia,the deletion rate is 60%;The other one is severe oligozoospermia,the deletion rate is 14.29%;No microdeletion has been detected in B group,the deletion rate was 0%. Conclusion：In the male with Y chromosome ≤22 chromosome,the rate of.AZF microdeletion in those whose sperm concentration ≥10×10^6/ml is very low. But the azoospermia and severe oligozoospermia patients have a risk of having AZF microdeletion. Especially in the azoospermia,the risk of accompanying with multiple areas of AZF microdeletion is notable.