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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。
Purpose Asexual gland disease is rare, the molecular mechanism is not yet clear. The article reported a case of patients with asexual gland Y chromosome rearrangement. Methods Karyotype analysis combined with fluorescence in situ hybridization (FISH) and polymerase chain reaction-sequence tagging sites (PCR-STS) was used to determine patient karyotype. SRY and SHOX genes were sequenced. The expression of USP9Y gene and UTY gene on AZFa of the long arm of Y chromosome was analyzed by reverse transcription-quantitative PCR (RT-qPCR). Results Karyotype was 46, X, der (Y) (pter → q11.23 :: pter → p11.31orp11.2 :). Ishder (Y) (DYZ3 +, SRY ++, pter ++, qter-). Patients with Ypter → p11.31 or p11.2 fragment duplication, q11.23 → qter fragment deletion, there is no sex chromosome chimerism and autosomal structural aberrations. SRY and SHOX gene sequencing found no mutation. The USP9Y gene and the UTY gene on the Y chromosome are scarcely expressed. Conclusion A case of asexual gland disease with Y chromosome rearrangement is reported for the first time. Y-linked gene is almost not expressed, suggesting that Y chromosome may be inactivated, presumably the cause of asexual gland disease and short stature.