山东地区260例男性不育Y染色体AZF微缺失诊断的临床研究

目的探讨山东地区男性不育人群与 Y 染色体无精子因子（AZF）微缺失的关系。方法采用外周血染色体G带检测方法对患者行染色体核型分析，筛选出Y染色体整体形态偏小者，对符合纳入标准的260例患者分为少精症患者A组（130例）和无精症患者B组（130例），正常男性对照组C组（20例）及空白对照组D组。采用多重PCR扩增检测技术对Y染色体形态偏小患者进行AZF微基因检测。结果从检测出Y染色体形态偏小患者260例中，共检出54例Y染色体AZF微缺失，C组无AZF基因缺失，与A、B组比较，AZF a，b，c总缺失率明显低于A、B组，且有显著性差异（P＜0.05）。结论 Y染色体AZF微缺失可能是造成男性无精子症或少精子症的主要因素，因此对男性不育患者进行Y染色体AZF微缺失诊断具有重要意义。

Clinical significance of Y chromosome AZF microdeletion diagnosis in 260 infertility patients in Shandong area

Objective To investigate the relationship between male infertility crowds and Y chromosome microdeletions in ShanDong region .Methods Chromosome Karyotype analysis was detected by Peripheral Blood chromosome G-band detection method .There were 260 cases of patients with smaller Y chromosome .The cases were divided into 4 groups：group A,oligozoospermia（130 cases）,group B,azoospermia（130 cases）,group C,normal male control group（20 cases）and group D,blank control group,AZF microdeletions genetic were detected in the patients with small Y chromosome by multiplex PCR detection technology .Results There were 260 cases of patients with smaller Y chromosome morphology , which detected 54 cases with Y chromosome AZF microdeletion patients , there was no AZF gene deletion in group C ,to compare with group A,B,the gene of AZFa,b,c,total loss rate was lower than that in group A , B, there were significant differences （ P 〈0.05 ） .Conclusion The Y chromosome AZF microdeletions maybe is one of the main causes of azoospermia or oligozoospermia .So diagnosis of Y chromosome AZF microdeletions is of great significance in patients with male infertility .