Turner综合征Y染色体物质嵌合分子遗传学研究

摘要：目的　分析Turner综合征（TS）患儿Y染色体物质及衍生物嵌合发生的情况,为TS患儿诊断后的监测提供科学建议,改善国内TS监测和保健管理的现状。方法　选取2006年2月至2007年8月在重庆医科大学附属儿童医院诊断为TS患儿30例,进行基因组DNA 的Y编码睾丸特异性蛋白基因（TSPY）、 Y染色体中心着丝粒DYZ3重复序列（DYZ3 ）和Y性别决定区域（SRY）3个Y染色体特异序列多聚酶链反应（PCR）检测,反应结果阳性的病例补充SRY探针原位荧光杂交（FISH）分析。结果　基因组DNA 的PCR结果显示,3例患儿的TSPY、 DYZ3扩增均为阳性（10.00%）,其中只有1例 SRY 扩增阳性（3.33%）;3例Y染色体物质阳性病例进一步进行FISH研究,结果显示3例SRY杂交信号均为阳性。结论　运用3个Y染色体特异序列的分子遗传学研究,证实Y染色体物质嵌合在TS不少见,每一个TS患儿都应在诊断后进行Y染色体物质的分子遗传学监测。

Molecular genetic study of Y chromosomal material in Turner syndrome.

Molecular genetic study of Y chromosomal material in Turner syndrome.　　LI Cheng*, CHENG Qian,DENG Bing,LI Ya-sha. *Department of Pediatrics,the Affilicated Hospital of Luzhou Medical College, Luzhou 646000,China Abstract： Objective　To determine the presence of Y chromosomal material for Turner syndrome（TS） in Chongqing,so as to provide suggestion for monitoring the patients after diagnosis and  improve the supervision and care in China. Methods　Thirty patients with TS were recruited from the Outpatient at Children’s hospital of Chongqing Medical University from Feb.2006 to Aug.2007. Cryptic Y chromosomal material was analyzed: TSPY（Testis-specific protein Y-encoded）, DYZ3 （centromeric DYZ3 repeat）and SRY （sex-determining region Y） were amplified by PCR using genomic DNA, and SRY FISH analysis was employed as supplement for the positive. Results　We found 3 cases （10.00%）were positive for TSPY and DYZ3 , only 1 （3.30%） of whom was positive for SRY in the cases. SRY in 3 cases  were all positive in FISH analysis. Conclusion　It is the first molecular study on cryptic Y chromosome material in China that 3 Y-specific sequences along the Y chromosome have been selected for analysis. Our studies show that the Y chromosomal material is not rare in TS of Chongqing. It suggests that Y chromosomal mosaicism screening should be mandatory supervision after diagnosis.