MLPA-微阵列技术在Y染色体异常检测中的初步应用  

Preliminary application of MLPA-based array in detecting Y chro- mosome abnormalities

作　　者：周大文[1] 管翌华[2] 许淼[1] 颜景斌[1] 黄英[1] 张敬之[1] 任兆瑞[1] 

机构地区：[1]上海交通大学医学遗传研究所,卫生部医学胚胎分子生物学重点实验室暨上海市胚胎与生殖工程重点实验室,上海200040 [2]上海交通大学附属儿童医院中心实验室,上海200040

出　　处：《遗传》2008年第12期1629-1634,共6页Hereditas（Beijing)

基　　金：国家高技术研究发展计划(863项目)(编号:2007AA02Z400)项目;国家科技支撑计划(编号:2006BAI05A07,2006BAI05A08);上海市卫生局联合攻关重大项目(编号:2008ZD004);上海市级医院新兴前沿技术联合攻关项目(编号:SHDC12007101);国家和上海市重点学科项目(编号:B204)资助~~

摘　　要：为了探讨MLPA-微阵列技术用于检测性染色体异常的可行性和精确性,针对Y染色体上的3个基因TSPY(p11.2)、PRY(q11)和RBMY(q11.2)设计MLPA探针,应用MLPA-微阵列技术对15例已知染色体核型的样品进行检测,将检测结果与各样品核型分析和PCR的检测结果进行对照和比较。结果表明,MLPA-微阵列技术对上述各基因位点的检测结果与样品染色体核型基本吻合,特别是对二例核型分析没有获得染色体结构异常信息的样品,MLPA-微阵列技术检测出Y染色体微小的缺失或指示某些未知染色体片段的信息,并与PCR检测结果完全相符。表明文章报道的MLPA-微阵列技术能够检测核型分析无法分辨的微小变化和异常,显示MLPA-微阵列技术在染色体异常分析中具有很高的检测效率和准确性,相对于染色体核型分析具有明显的优势,在临床染色体病诊断中具有较大的应用前景。To explore the feasibility and accuracy of MLPA-based array （Array-MLPA） in detecting sex chromosome ab- normalities, MLPA probes were designed to target against three gene loci, TSPY （pll.2）, PRY （qll）, and RBMY （qll.2） in human Y chromosome. Array-MLPA approach was applied to test abnormalities of Y chromosome in 15 patient samples with known karyotypes. The data were compared with karyotyping and PCR analyses. The results showed that the copy number of each site detected by Array-MLPA was basically consistent with karyotyping analysis. Moreover, small deletions of chromosomes that were not found by routine karyotyping analysis were identified by the approach described, which fully agreed with PCR analysis, indicating that Array-MLPA was able to detect small abnormalities of chromosomes that cannot be found by karyotyping analysis. Compared to the routine karyotyping method, Array-MLPA has the advantages of high efficiency and reliability in chromosomal analysis, which has great potential in clinical application of diagnosis of chromosome abnormalities.

关 键 词：MLPA 微阵列 染色体异常 

分 类 号：R446.9[医药卫生—诊断学]