引物原位标记联合核型分析快速检测克氏综合征

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。

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

Objective:Klinefelter 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 1034 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 Klinefelter 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 metaphase lympbocytes.