Klinefelter综合征Y染色体微缺失的检测

Detection of Y chromosome microdeletions in azoospermic patients with Klinefelter′s syndrome

目的观察Klinefelter综合征(Klinefelter syndrome,KS)患者Y染色体无精症基因(azoospermia fac-tor,AZF)微缺失检测情况。方法对48例Klinefelter综合征患者及作为对照组的47例已婚已有生育的男性抽血测定血清卵泡刺激素(FSH)、黄体生成激素(LH)、睾酮浓度和染色体核型,进行生殖器体检并测量阴茎长度及睾丸容积。采用6个实验用序列标签位点(STS)(sY84、sY86、sY127、sY134、sY254和sY255)并以X/Y连锁锌指蛋白基因(ZFX/Y)为内对照进行多重PCR筛查Y染色体微缺失。结果48例均未测出AZF微缺失;对照组47例样本也均未检出AZF基因微缺失,KS患者FSH和LH浓度高于对照组,KS患者睾酮浓度低于对照组,KS患者阴茎长度及睾丸容积均小于对照组。结论Y染色体AZF缺失不是引起KS患者生精障碍的遗传因素,AZF缺失与KS之间可能存在不确定的关系。

[ Objective ] To study the occurrence of Y chromosome in azoospermic patients with （KS）. [Methods] Blood and semen samples were collected from azoospermic patients with KS （n =48） and a control group of men of proven fertility （n =47）. Semen analysis was done according to World Health Organization （WHO） guidelines. Blood samples were processed for karyotyping and measurement of plasma follicle stimulating hormone （FSH） , luteinizing hormone（LH） and testosterone were measured by radioimmunoassay. The testicular volume and penis were measured. To determine the presence of Y chromosome mierodeletions,polymerase chain reaction （PCR） of 6 sequence tagged sites （Y84, sY86, sY127, sY134, sY254, sY255） spanning the AZF region, was performed on isolated genomie DNA. [ Results ] The level of FSH and LH in KS subjects was higher than that in fertile men and the testosterone level in KS subjects was lower than that in the control group . The testicular volume and penis length in KS subjects were lower than that in the control group. 47 subiects with KS had a 47XXY karyotype and one subjects had a 48XXXY karyotype . The fertile mens had a 46XY karyotype . Y chromosome mierodeletions were not found in any of the 48 azoospermic subiects with KS.In addition, using similar conditions of PCR.No microdeletions were observed in the 47 fertile men evaluated. [ conclusion] Our data suggest that classical AZF deletions might not play a role in predisposing genetic background for spermatogenous disturbance of azoospermic KS subject. There is a uncertain relation between AZF and KS.