无性腺症患者合并Y染色体结构重排的临床及细胞分子遗传学分析  

A novel case of agonadism with Y chromosome rearrangement:Clinical and cytogenomic analyses

作　　者：崔英霞[1] 史轶超[1] 刘琦[2] 夏欣一[1] 卢洪涌[1] 魏丽[1] 姚兵[1] 戈一峰[1] 王国洪[1] 李晓军[1] 黄宇烽[1] 

机构地区：[1]南京军区南京总医院解放军临床检验医学研究所,南京210002 [2]南京军区南京总医院妇产科,南京210002

出　　处：《医学研究生学报》2010年第1期57-62,共6页Journal of Medical Postgraduates

基　　金：江苏省135工程重点学科基金([2001]34);江苏省科技厅平台项目基金(BM2008151)

摘　　要：目的无性腺症是罕见的,其分子机制尚不清楚。文中报道1例无性腺症患者合并Y染色体结构重排。方法染色体核型分析结合荧光染色体原位杂交(FISH)和聚合酶链反应-序列标签位点(PCR-STS)以确定患者核型。对SRY和SHOX基因进行序列分析。用反转录荧光定量PCR(RT-qPCR)对位于Y染色体长臂的AZFa上USP9Y基因和UTY基因进行表达分析。结果患者核型为46,X,der(Y)(pter→q11.23::pter→p11.31orp11.2:).ishder(Y)(DYZ3+,SRY++,pter++,qter-)。患者Ypter→p11.31或p11.2片段重复,q11.23→qter片段缺失,没有性染色体嵌合和常染色体结构畸变。SRY和SHOX基因测序未发现突变。Y染色体上的USP9Y基因和UTY基因几乎不表达。结论文中1例无性腺症患者合并Y染色体结构重排是首次报道,Y-连锁基因几乎不表达,提示Y染色体可能失活,推测是无性腺症和矮身材的原因。Objective Agonadism is a rare disease and its molecular mechanism is not yet clear. We reported a novel case of primary agonadism with Y chromosome rearrangement. Methods Chromosome analysis, FISH and PCR-STS were performed to determine the karyotype of the patient, sequencing analyses were conducted on the SRY and SHOX genes, and RT-qPCR was employed to detect the expression levels of the USP9Y and UTY genes on the region of AZFa in the Y chromosomal long arm. Results All the metaphases examined from the patient＇s blood lymphocytes and skin fibroblasts by G-banding showed the karyotype to be 46, X, der（Y） （ pter→q11.23 ： ： pter→p11.31 or p11.2 ： ）. ish der（Y） （ DYZ3 ＋ , SRY ＋＋, pter ＋＋ , qter - ）. The patient exhibited a segmental du- plication of Ypter→p11.31 or pl 1.2 and a deletion of ql 1.23→qter. Neither the evidence of sex mosaicism or any structural aberrations of autosomes nor the mutation of the SRY or SHOX gene was found. The SHOX gene copy number was normal without deletion. Little expression of the USP9Y and UTY genes was observed. Conclusion This is the first case of agonadism with Y chromosomal rearrangement ever reported. The patient exhibited little expression of Y-linked genes, which indicated the structurally rearranged Y chromosome might be inactive and responsible for the observed agonadism with short stature.

关 键 词：无性腺症 矮身材 Y染色体重排 SRY基因 SHOX基因 

分 类 号：Q343[生物学—遗传学]