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一个回汉通婚经典型苯丙酮尿症家系产前基因诊断

Xiao-ran LIU,Can-lin ZHOU,Yan XIA,Ning-ning HAN,Zhi-juan LIU,Rui HAN,Ling DUAN

Journal of Chinese Practical Diagnosis and Therapy（2015）

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Abstract
目的 对1个回汉通婚的经典型苯丙酮尿症家系第2胎胎儿进行产前DNA突变分析.方法 采集家系成员外周血标本和受检孕妇羊水标本,常规提取基因组DNA,采用Sanger测序检测PAH基因突变情况,采用二代测序法检测Sanger测序未检测到的基因突变,采用实时荧光定量PCR验证二代测序检测到的突变.胎儿出生后进行新生儿疾病筛查.结果 胎儿检出携带父源c.728 G＞A,未遗传母源外显子1缺失,为携带者,并经实时荧光定量PCR验证;该胎儿出生后经新生儿疾病筛查,证实为健康个体.结论 苯丙酮尿症的产前基因诊断应根据实际情况灵活采用多种方法综合分析以提高诊断准确性.
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Key words
Classic phenylketonuria,gene,prenatal diagnosis
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