多重荧光定量PCR联合染色体微阵列分析在SRY基因异常产前诊断的应用价值  

The value of Quantitative Fluorescence PCR combined with CMA in abnormal prenatal diagnosis of SRY gene

作　　者：袁腾龙 张艳霞[1] 胡蓉 胡听听 黄伟伟[1] 卢建[1] YUAN Teng-long;ZHANG Yan-xia;HU Rong;HU Ting-ting;HUANG Wei-wei;LU Jian(Medical Genetic Center,Guangdong Women and Children Health Care Hospital,Guangzhou 511400)

机构地区：[1]广东省妇幼保健院医学遗传中心

出　　处：《中国优生与遗传杂志》2019年第11期1301-1302,1310,F0002,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨多重定量荧光聚合酶链反应(QF-PCR)联合染色体微阵列分析(CMA)在SRY基因异常的产前诊断的应用价值。方法2017年4月至2018年10月共21516例高危孕妇在我中心进行QF-PCR检测,发现2例胎儿的SRY基因座峰型图谱与胎儿染色体核型分析的性别结果不符。为进一步查找原因,对这两例胎儿进行CMA分析。结果病例1 QF-PCR结果提示胎儿性染色体为XY,但SRY基因阴性,核型结果为46,XY,CMA发现Yp11.2-pter位置发生5.2Mb缺失,涉及SRY等6个基因。病例2为QF-PCR。结果提示胎儿性染色体为XX,但SRY基因为阳性,CMA发现Y染色体Yp11.2,Yp11.31p11.2区域有留存,且留存区域包含了男性性别决定因子(SRY基因)。结论采用多重荧光定量PCR联合CMA可以有效避免性染色体基因座变异导致性别误判,可以有效指导产前诊断患者后续指导及治疗。Objective:To investigate the value of multiple quantitative fluorescent polymerase chain reaction(QF-PCR)combined with chromosome microarray analysis(CMA)in prenatal diagnosis of SRY gene abnormalities.Methods:From April 2017 to October 2018,a total of 21516 high-risk pregnant women were tested by QF-PCR in our center.It was found that the SRY locus peak pattern of 2 fetuses did not match the gender results of fetal karyotype analysis.For further investigation,the two fetuses were subjected to CMA analysis.Results:The QF-PCR results showed that the fetal sex chromosome was XY,but the SRY gene was negative.The karyotype results were 46,XY.CMA found that 5.2 Mb deletion occurred in the Yp11.2-pter position,involving 6 genes including SRY.Case 2 showed that the QF-PCR results indicated that the fetal sex chromosome was XX,but the SRY gene was positive.CMA found Y chromosome Yp11.2,Yp11.31 p11.2 region remained,and the retention region contained male sex determinant(SRY gene).Conclusion:Multiplex quantitative PCR combined with CMA can effectively avoid gender misjudgment caused by mutation of sex chromosome locus,which can effectively guide the follow-up guidance and treatment of prenatal diagnosis patients.

关 键 词：荧光定量聚合酶链反应 染色体微阵列分析 产前诊断 SRY基因 性别误判 

分 类 号：R714.55[医药卫生—妇产科学]