一个回汉通婚经典型苯丙酮尿症家系产前基因诊断  

Prenatal gene diagnosis of a Hui-Han intermarriage family with classic phenylketonuria

作　　者：刘翛然[1] 周璨林[2] 夏燕[1] 韩宁宁[1] 刘志娟[1] 韩锐[1] 段玲[1] 

机构地区：[1]新疆医科大学第一附属医院母胎医学中心医学遗传产前诊断实验室,乌鲁木齐830054 [2]新疆医科大学基础医学院生物教研室,乌鲁木齐830054

出　　处：《中华实用诊断与治疗杂志》2015年第11期1084-1087,共4页Journal of Chinese Practical Diagnosis and Therapy

基　　金：新疆医科大学第一附属医院科研基金青年项目(2013ZRQN05)

摘　　要：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.728G>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。Objective To diagnose classic phenylketonuria on the second fetus from a Hui ethnic and Han ethnic intermarriage family by DNA mutation analysis. Methods Peripheral blood from the pedigrees and the amniocytes from the pregnant woman were collected to extract genomic DNA by the regular methods. Sanger sequencing method was used to detect phenylalanine hydroxylase （PAH） gene mutation. Chain termination method was used to detect the gene mutation which was not found by Sanger method. And qPCR was used to detect the gene mutation which was not found by chain termination method. The neonatal screening was done to verify the results after birth. Results The fetus was detected with a mutation of c. 728 G〉A on PAH gene inherited from his father and also a normal PAH gene from his mother carrying a deletion of exon 1 on PAH gene, which was confirmed by qPCR. The neonatal screening proved the neonate healthy. Conclusion The accuracy of prenatal diagnosis of classic phenylketonuria could be improved by various methods based on the actual situation.

关 键 词：经典型苯丙酮尿症 基因 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学] R440[医药卫生—临床医学]