性腺发育不全患者荧光原位杂交和BAC-FISH的诊断  

Molecular and cytogenetic study on 5 cases with gonadal dysgenesis： clinical applications of fluorescence in situ hybridization（FISH） and BAC-FISH

作　　者：吴琼 李健 吴慧南 周东兴 蔡美娇 沈艳艳 杨超毅 葛运生 孔辉 黄新力 

机构地区：[1]福建省厦门市妇幼院产前诊断中心实验室,361003 [2]Center for Human Genetics, Boston University School of Medicine, Boston, U.S. A

出　　处：《中华医学遗传学杂志》2008年第5期570-572,共3页Chinese Journal of Medical Genetics

基　　金：福建省厦门市卫生局科研课题（2004）

摘　　要：目的探讨荧光原位杂交（fluorescence in situ hybridization，FISH）和BAC—FISH（bacterial artificial chromosome—FISH）在性腺发育不全患者临床医学遗传学诊断中的应用。方法对5例临床检查诊断为性腺发育不全患者进行染色体荧光Q显带、G显带核型分析、FISH和BAC—FISH等分子-细胞遗传学检查诊断。结果5例性腺发育不全患者中2例为46，XY核型的单纯性性腺发育不全，另外3例分别为45，X／47，XXX；45，X／46，XY或45，X／46，X，der（Y）嵌合体核型的混合性性腺发育不全。结论性染色体的异常是导致患者性腺发育不全的原因。Objective To explore the applications of fluorescence in situ hybridization （FISH） in the diagnosis for the patients with gonadal dysgenesis. Methods After routine gynecologic examination, ultrasonography and endocrine examination, 5 cases of gonadal dysgenesis and hypogonadism were analyzed by using chromosomal diagnoses including G-banding, Q-banding, multiplex FISH and BAC-FISH analyses. Results Among the 5 cases of gonad agenesis patients, 2 were pure gonadal dysgenesis with 46, XY karyotype, 3 were mixed gonadal dysgenesis with mos 45, X/ 47, XXX; 45, X/46, XY or 46, X, der（Y） karyotype. Conclusion Sex chromosomal abnormalities resulted in gonadal dysgenesis symptoms. Applications of FISH and BAC-FISH analyses can correctly diagnose the sex chromosomal abnormalities for patients with gonad agenesis and provide accurate medical genetic data for clinical diagnosis and therapy.

关 键 词：荧光原位杂交 性腺发育不全 性染色体异常 

分 类 号：R686[医药卫生—骨科学]