105例无精子、少精子症患者Y染色体AZF区微镍失检测的研究

目的 探讨中国人群无精子、少精子症患者常规6个STS位点检测Y染色体AZF基因微缺失的情况。方法 选取EAA和EMQN推荐的常规6个Y染色体特异性序列标签位点，经2组多重PCR对76例无精子症和29例少精子症男性患者进行Y染色体AZFa、AZFb和AZFc区微缺失检测。其中，8例无精子症患者还同时进行了G带染色体核型分析、荧光Q-显带等细胞遗传学检测。结果 105例患者经6个STS位点检测发现AZF区微缺失9例。其中AZFc（SY254，SY255）缺失7例，AZFb（SY127，SY134）＋AZFc（SY254，SY255）缺失2例，未发现AZFa缺失。复合微缺失及其它6例未检出微缺失的患者同时经细胞遗传学分析，发现4例染色体结构异常。2例复合微缺失患者分别为Y等臂染色体：46，X，idic（Y）（q11．2）、X和Y等臂染色体的嵌合体：45，X19]／46，X，idic（Y）（q11．2）；1例为Y染色体长臂部分失：46，X．del（Y）（q11．2）；另1例为Y染色体部分片段复制至15号染色体：46，XY，der（15）t（Y；15）（q11．2；p11．1）。根据细胞遗传学结果，重新设计STS检测位点，发现Y染色体长臂部分缺失患者存在AZFc（SY243，SY158）的缺失。结论 Y染色体AZF微缺失的检测是临床判断无精子、少精子症患者是否遗传因素的重要手段。但传统的6个STS位点检测在中国人群中应用尚需进一步验证。同时做细胞遗传学分析对疾病的准确诊断会有很大帮助。

Reasearch of microdeletion detection of AZF region on Y chromosome in 105 cases of Chinese patients with spermatogenetic malfunction

Objective ： To investigate the detection of microdeletions in the Y chromosome AZF region by six Y chromosome STS in 105 Chinese patients with spermatogenetic malfunction, Methods： Six Y chromosome specific sequence tagged sites （STS） in AZF region recommended by EAA and EMQN were screened to determin microdeletions by multiplex PCR in 76 casese of azoospermia and 29 cases of oligoasthenoteratozoospermia. Meanwhile, 8 cases of oligoasthenoteratozoospermia were analysised by using chromosome GTG -banding, Q- banding. Results： AZF microdeletion in the genomic DNA were observed in 9 of 105 cases by 6 recommened STS sites. 7 of AZFc （ SY254, SY255） microdeletions and 2 case of complex microdeletion of AZFb ＋ AZFc, none of AZFa. The case with complex microdeletion and 6 other cases with no microdeletion were further analysised by chromosome GTG - banding, Q - banding and FISH. 4 cases showed to have an abnormal chromosome karyotype. One with 46, X, idic （ Y ） （ ql 1.2） and 45, X 19] /46, X, idic （Y） （q11. 2） which with complex microdeletion of AZFb （SY127, SY134） ＋ AZFc （SY254, SY255） ; The other abnormal chromosome karyotype were 46, X. del （Y） （q11.2） which were found with a microdeletion of AZFc （SY243, SY158） detected by other STS sites and 46, XY, der （15） t （Y ; 15） （ q11.2 ; p 11.1 ） , separately. Conclusions ： The detection of microdeletions of the Y chromosome is an important method to help the genetics diagnosis of azoospermia and oligozoospermia. But the selection of STS sites needed to be more investiged. The cytogenetics analysis may be very helpful in diagnosis.