摘要
目的研究淮海地区汉族苯丙酮尿症（PKU）人群中苯丙氨酸羟化酶（PAH）基因突变特征。方法选择2003年1月至2013年12月在徐州市妇幼保健院确诊的101例PKU患者，应用聚合酶链反应．单链构象多态性（PCR-SSCP）分析及基因测序方法，对础H基因13个外显子及其两侧部分内含子进行突变的筛查和确定。结果1．在202个PAH等位基因中共检测出24种不同的突变类型，将这24种突变资料提交美国国立生物技术信息中心（NCBI）dbSNP数据库，获得24个序列号SS#2137543837～SS#2137543860。2．PAH基因突变集中在第7外显子及其两侧部分内含子。最常见的突变是c．728G〉A（P．R243Q）（18．317％），其他较常见突变有C．721C〉T（P．R241C）（8．416％），C．1155G〉C（P．1385L）（4．950％），C．1068C〉A（P．Y356X）（3．960％），c．-71A〉C（-71A〉C）（3．465％），C．60＋62C／T（IVSl＋62C〉T）（2．970％）。3．在中国汉族PKU人群朋日基因发现了2个新的突变：c．60＋62C〉T（IVSl＋62C〉T）和c．782G〉T（P．R261L）。结论淮海地区PAH基因大部分突变类型和比例与中国其他地区相似，少部分存在明显差异。淮海地区汉族PKU人群PAH基因突变谱呈地域特异性。
Objective To determine the spectrum of mutations responsible for Phenylalanine hydroxylase （PAH） deficiency on phenylketonuria （PKU） patients of HaM Chinese people in the Huaihai region of central China. Methods One hundred and one patients diagnosed with PKU were referred to Xuzhou Maternity and Child Health Care Hospital for genetic counseling/analysis from January 2003 to December 2013. Thirteen exons of PAH gene muta- tions, as well as their flanking introns, were identified in 202 of chromosomes using polymerase chain reaction - single strand conformation polymorphism（ PCR - SSCP） and sequencing. Results （ 1 ） The spectrum was composed of 24 different mutation types,which had been submitted to the National Center for Biotechnology Information（NCBI） dbSNP databases under accession number SS#2137543837_SS#2137543860. （2）The most commonly affected region was exon 7 and its flanking introns. The most prevalent mutations were c. 728G 〉 A （p. R243Q）, followed by c. 721C 〉 T （p. R241C）,c. l155G〉C（p. L385L）,c. 1068C〉A（p. Y356X）,c. -71A〉C（-71A〉C） and c. 60＋62C〉T （IVS1 ＋62C 〉 T） ,accounting for 18. 317% ,8. 416% ,4.950% ,3. 960% ,3. 465% and 2. 970% of the mutant chro-mosomes, respectively. （3）Two novel mutations were identified in PAH gene in PKU patients of HaM Chinese people： c. 60 ＋ 62C 〉 T（ IVS1 ＋ 62C 〉 T） and c. 782G 〉 T （ p. R261L）. Conclusions The vast majority of PAH mutations identified corresponded to those observed for the PKU populations in the other regions in China, whereas a few are considerably different from others. The mutational spectrum of PAH gene found in patients with PKU in the Huaihai region exhibit regional association.
作者
庞永红
褚英
刘雪楠
邓晓毅
闫俊梅
刘倩
陈桂荣
高翔羽
Pang Yonghong;Chu Ying;Liu Xuenan;Deng Xiaoyi;Yah Junmei;Liu Qian;Chen Guirong;Gao Xiangyu(Neonatal Medical Center,Xuzhou Maternity and Child Health Care Hospital,Xuzhou 221009,Jiangsu Province,China（Pang YH,Chu Y,Liu XN,Deng XY,Yah JM,Liu Q,Chen GR;Children Diagnosis and Treatment Center,Xuzhou Hos-pital Affiliated to Southeast University,Xuzhou 221009,Jiangsu Province,China（Gao XY)
出处
《中华实用儿科临床杂志》
CSCD
北大核心
2018年第20期1545-1549,共5页
Chinese Journal of Applied Clinical Pediatrics
基金
江苏省妇幼健康科研项目（F201419）
徐州市科技局科技发展项目（XMl38068）
