AZF基因缺失与男性精子缺陷的相关性

THE ASSOCIATIVITY OF AZF GENE DELETION AND SPERM DEFECT IN MAN

目的了解AZF基因与男性精子缺陷发生的关系。方法采用多重聚合酶链反应-琼脂糖电泳检测技术,利用挑选的AZFa、AZFb、AZFc共3个区域的6个序列标签位点(STS),对80例精子正常男性、142例特发性无精子症和113例重度少精子症病人进行AZF微缺失分析。结果正常男性组未检出AZF基因缺失;特发性无精子症组检出AZF缺失21例(14.79%),其中AZFa缺失1例,AZFb缺失3例,AZFc缺失14例,AZFb+AZFc缺失3例;重度少精子症组检出AZF缺失14例(12.39%),其中AZFc缺失12例,AZFb+AZFc缺失2例。特发性无精子症组、重度少精子症组AZF缺失率与正常男性组比较,差异有显著性(2χ=11.39、8.92,P<0.01);而特发性无精子症组与重度少精子症组间差异无显著性(P>0.05)。结论AZF微缺失是引起特发性无精子症和重度少精子症的原因之一,与男性精子缺陷发生密切相关。

Objective To study the correlation between AZF gene family and spermatogenic impairment. Methods Multiplex PCR and agarose gel electrophoresis tests were used to detect AZF microdeletion in 80 normal men, 142 with azoospermia and 113 with oligozoospermia with six Sequence Tagged Site （STS）. Results No microdeletions were found in normal men; in azoospermia group, 21（14.79 %） cases with AZF mierodeletions were found, including one AZFa, three AZFb, 14 AZFc and three AZFb＋c; in oligozoospermia group, 14（12.39%） mierodeletions were found, including 12 AZFc and two AZFb＋c. The deletion rates of AZF in azoospermia and oligozoospermia groups were higher than that in normal subjects, the difference was significant （Χ^2= 11.39,8.92;P〈0.01）, but no difference shown between azoospermia and oligozoospermia groups. Conclusion Microdeletion of AZF gene is one of the causes leading to azoospermia and severe oligozoospermia, which has a close relation with the development of sperm defect.