引物原位标记联合核型分析快速检测克氏综合征  

Klinefelter syndrome detected by combination G-banding analysis withprimed in situ labeling technique

作　　者：魏霞[1] 代红莹[2] 高加良[1] 朱一剑[1] 朱天金[2] 

机构地区：[1]四川大学生命科学学院遗传医学研究所生物资源与生态环境教育部重点实验室,成都610064 [2]重庆医科大学附属永川医院,重庆永川402160

出　　处：《中国优生与遗传杂志》2012年第2期17-19,72,F0002,共5页Chinese Journal of Birth Health & Heredity

摘　　要：目的探索PRINS技术联合G显带核型分析检测克氏综合征染色体。方法对1034例男性不育患者外周血用常规G显带核型分析方法进行分析,对检出的克氏综合征(Klinefelter综合征)患者用引物原位标记(PRINS)技术进行染色体检测,比较分析染色体异常的检出情况。结果用常规G显带核型分析方法检出核型异常患者134例,核型异常比例为12.96%;其中染色体数目异常70例占异常总数的52.23%(Klinefelter综合征患者56例占41.79%),余下为染色体结构异常64例占47.77%;采用PRINS技术对Klinefelter综合征患者的染色体进行检测,结果与G显带核型分析结果一致。结论与常规核型分析方法相比,PRINS技术可快速、准确检测染色体数目异常。Objective： Klinefeher syndrome detected by combination G- banding analysis with primed in situ labeling （PRINS）. Methods ： Chromosomal abnormalities （ Klinefelter syndrome） were detected By triple - color PRINS technique after Karyotypes analyzed in 1, 034 cases of male infertility. Results： As the detection results of I034 cases of male infertility, 134 cases （12. 96% ） were cytogenetic abnormalities, of which 56 patients were Klinefelter syndrome, accounting for 41.79% of total abnormalities. The proportion of chromosomal number abnormalities （ 52. 23% ） is considerable of chromosomal structure abnormalities （ 47.77% ）. PRINS procedure in human cultured lymphocyte metaphase cells was done to analyse the sample of Klinefeher syndrome, the same result was demonstrated by comparing PRINS with G- banding karyotype analysis. Conclusions ： Comparing to the method of karyotype analysis, PRINS was seemed to be a rapid and reliable way to detect numerical chromosome abnormalities in peripheral blood meta-phase lympbocytes.

关 键 词：G显带核型分析 引物原位标记 染色体异常 KLINEFELTER综合征 

分 类 号：R440[医药卫生—诊断学] R698.2[医药卫生—临床医学]