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目的分析遗传学检查在极重度少精子症、无精子症患者群中阳性的检出率及其临床应用的意义。方法回顾性分析2013年7月至2014年7月邢台地区146例极重度少精子症、无精子症患者的临床资料,利用细胞遗传学检查,对患者外周血进行培养,提取中期分裂相后镜检。对染色体Y基因片段AZFa、AZFb、AZFc区上的6个位点进行检测,A组s Y254、s Y127、s Y86 3个位点,B组s Y134、s Y84、s Y255 3个位点。结果染色体核型异常者29例(19.9%),其中数目异常11例(7.5%),易位2例(1.4%),臂间倒位2例(1.4%),大Y 2例(1.4%),小Y 11例(7.5%),性逆转1例。本组数据显示遗传学检查在极重度少精子症、无精子症患者中的阳性率可高达31.5%。染色体Y基因片段检测发现单独C区缺失13例(8.9%),B+C区缺失3例(2.1%),A+B+C区缺失1例(0.7%)。结论极重度少精子症、无精子症患者病因中遗传学因素占有较大比例。
Objective To analyze the positive detection rate and its clinical significance of genetic tests in patients with severe oligospermia and azoospermia. Methods The clinical data of 146 patients with severe oligozoospermia and azoospermia in Xingtai area from July 2013 to July 2014 were retrospectively analyzed. Peripheral blood was collected from patients with cytogenetics, and metaphase Check Six loci on AZFa, AZFb and AZFc regions of chromosome Y gene were detected. Three sites of s Y254, s Y127 and s Y86 in group A and three sites of s Y134, s Y84 and s Y255 in group B were detected. Results There were 29 cases (19.9%) with abnormal chromosomal karyotype, 11 cases (7.5%) with abnormal number, 2 cases (1.4%) with translocation, 2 cases ), Small Y 11 cases (7.5%), 1 case of sexual inversion. The data show that genetic tests in extremely severe oligozoospermia, azoospermia in patients with positive rates up to 31.5%. Chromosomal Y gene fragment detection revealed 13 cases (8.9%) of deletion in C region, 3 cases (2.1%) in B + C region and 1 case (0.7%) in A + B + C region. Conclusions Severe oligospermia, azoospermia in patients with genetic causes accounted for a large proportion.