目的 本研究之目的在偵測患有無精蟲症或精蟲過少之台灣人,合併無精蟲症因子(azoospermic factor,AZF)缺損之比例。 方法 患有無精蟲症或精蟲過少之病患當為本研究之對象。透過聚合?鏈鎖反應(polymerase chain reaction ,PCR),使用無精蟲症因子之十二段基因序列,包括:DYSZ80,DYSZ09,DYZ2,DYS7,DYS239,DYS237, RPS4Y,DAZ,AMELY,DYS271,DYS1及DYSZ3來偵測有無基因缺損。 結果 共47 位男性納入本研究,包括28 位(60%)併有無精蟲症之男性及19 位(40%)併有精蟲過少之男性。結果發現共有多位5位男性偵測到AZF之缺損。基因片段缺損之分布比例如下: DYS209(2%),DYS7(2%),DYS239 (11%), DYS237 (11%) ,DAZ (9%),DYS1 (11%)及DYS232 (11%)。並無男性併有DYS280,DAZ2,RPS4Y,AMELY 及DYS271 之缺損。 結論 約十分之一之無精蟲症或精蟲過少之台灣人合併有無精蟲症因子之缺損。台灣人在無精蟲症因子缺損之分佈比例與西方人類似。此研究成果可提供對患有無精蟲症或精蟲過少的台灣人治,與進一步研究時之資料基礎。
Objective. To investigate the prevalence of deletions in the azoospermic factor (AZF) region of chromosome Yq11 in Taiwanese with azoospermia or severeolig ozoospermia. Methods. Men with azoospermia or severe oligozoospermia were included. Twelve loci specific for AZF were amplified via polymerase chain reaction, including DYS280, DYS209, DYZ2, DYS7, DYS239, DYS237, RPS4Y, DAZ, AMELY, DYS271, DYS1, and DYS232. Result. A total of 47 men were included, including 28 patients (60%) with azoospermia and 19 patients (40%) with severe oligozoospermia. There were five (11%) patients with AZF deletions. The prevalence of locus deletions were as following: DYS209 (2%), DYS7 (2%), DYS239 (11%), DYS237 (11%), DAZ (9%), DYSI (1%), and DYS 232 (11%). No patients had deletions in the DYS280,DAZ2, RPS4Y, AMELY, or DYS271 Conclusions. Approximately 10% of the Taiwanese men with azoospermia or severe oligozoospermia had AZF deletions. The prevalence of AZF deletions in Taiwanese was similar to those in the Caucasian population. These results could provide the database for further surveys of AZF in Taiwanese.