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目的评估新疆地区汉族、维吾尔族不育男性不明原因无精子症和严重少弱精子症患者Y染色体AZF基因微缺失的频率,探讨不同民族间Y染色体AZF基因微缺失发生率的差异。方法以Y染色体无精子因子(AZF)区20个序列标签位点(STS)设计特异引物,采用多重PCR方法对449例(汉族347例,维吾尔族102例)不育男性患者进行Y染色体无精子因子(AZF)区微缺失检测,并比较不同民族的患者Y染色体无精子因子(AZF)区微缺失发生率的差异。结果 347例汉族患者中有11例(3.17%)存在Y染色体无精子因子(AZF)区微缺失,102例维吾尔族患者检出10例(9.80%)存在Y染色体无精子因子(AZF)区微缺失,在所有被检出有Y染色体无精子因子(AZF)区微缺失的患者中AZF区联合缺失19例(90.47%)。其中AZFb区缺失(100%)最常见,其次为AZFc区缺失(71.4%);AZFa区缺失(23.8%)和SRY基因的缺失(19.05%)。汉族患者与维吾尔族患者Y染色体无精子因子(AZF)区微缺失率(χ2=7.781,P=0.005)及AZF多位点联合缺失发生率差异(χ2=6.867,P=0.009)均有统计学意义(P<0.05)。结论无精子症和严重少弱精子症不育男性患者中Y染色体无精子因子(AZF)区微缺失发生率及AZF多位点联合缺失发生率存在民族差异,PCR检测AZF基因是诊断Y染色体无精子因子(AZF)区微缺失的较好的方法。
Objective To evaluate the frequency of Y chromosome AZF microdeletion in patients with unexplained azoospermia and severe oligoasthenospermia in Xinjiang Han and Uygur ethnic male infertile men and to explore the differences in the incidence of AZF microdeletion between Y chromosomes in different ethnic groups. Methods Specific primers were designed based on 20 sequence tags (STS) of Y-chromosome-free azoospermia (AZF) region. Multiplex PCR was used to detect 449 cases (347 Han cases and 102 Uygur cases) Factor (AZF) region microdeletion detection, and to compare the differences in the incidence of microdeletions in the Y chromosome Azoospermia factor (AZF) region of patients from different ethnic groups. Results There were 11 (3.17%) Han patients with microdeletion of AZF in 102 cases of Han patients, and 10 (9.80%) cases of AZF in 102 Uygur patients There were 19 (90.47%) cases of combined AZF deletion in all patients with microdeletions of the Y chromosome Azoospermia (AZF) region detected. Among them, AZFb deletion was the most common (100%), followed by AZFc deletion (71.4%), AZFa deletion (23.8%) and SRY deletion (19.05%). There was statistical difference in the rate of AZF deletion between Han and Uygur patients (χ2 = 7.781, P = 0.005) and AZF multi-locus deletion (χ2 = 6.867, P = 0.009) Significance (P <0.05). Conclusion There is a national difference in the incidence of AZF microdeletions and the incidence of AZF multifragmentation in infertile men with or without azoospermia and severe oligozoospermia. The detection of AZF gene by polymerase chain reaction (PCR) Better way to microdeletion of sperm factor (AZF) region.