宁夏苯丙酮尿症患儿苯丙氨酸羟化酶基因外显子7突变分析  

Analysis of mutations in exon 7 of phenylalanine hydroxylase gene among children with phenylketonuria in Ningxia, China

作　　者：毛新梅 何江 刘媛 李晓强 余伍忠 高治会 蔡晶 

机构地区：[1]宁夏回族自治区妇幼保健院儿童保健科,宁夏银川750004 [2]兰州军区乌鲁木齐总院临床医学研究所,新疆乌鲁木齐830000

出　　处：《中国当代儿科杂志》2014年第3期259-262,共4页Chinese Journal of Contemporary Pediatrics

基　　金：宁夏自然科学基金资助项目(NZ13237);宁夏科技支撑项目(2013ZYS122)

摘　　要：目的探讨宁夏地区苯丙酮尿症(PKU)患儿苯丙氨酸羟化酶(PAH)基因外显子7突变类型及频率,为该地区PKU的基因诊断和产前诊断提供依据。方法应用PCR产物直接测序方法,对宁夏73例经典型PKU患儿(回族39例,汉族34例)的146个PAH等位基因外显子7及其旁侧内含子区域进行序列分析。结果共检测出6种突变基因型,分别是R243Q(14.4%)、R241C(6.8%)、IVS7+2T→A(2.7%)、L255S(0.7%)、G247V(0.7%)和G247R(0.7%)。外显子7突变基因总频率为26.0%(38/146),包括错义突变和剪接位点突变两种。回族患儿R241C等位基因突变检出率高于汉族(10%vs 3%,P<0.05)。结论宁夏地区PKU患儿PAH基因外显子7突变频率最高的是R243Q,其次为R241C;回族和汉族PKU患儿R241C等位基因突变率不同。Objective To investigate the type and frequency of mutations in exon 7 ofphenylalanine hydroxylase （PAH） gene among children with phenylketonuria （PKU） in Ningxia, China and to provide a basis for the genetic diagnosis and prenatal diagnosis of PKU in this region. Methods Direct sequencing of PCR product was performed to analyze the sequences of exon 7 and its flanking introns of 146 PAH alleles in 73 children with typical PKU （39 cases of Hui nationality and 34 cases of Han nationality） in Ningxia. Results Six mutations were detected, including R243Q （14.4%）, R241C （6.8%）, IVS7＋2T→A （2.7%）, L255S （0.7%）, G247V （0.7%）, and G247R （0.7%）. The overall frequency of mutations （missense mutation and splice site mutation） in exon 7 was 26.0% （38/146）. The detection rate of R241C mutation was significantly higher in children of Hui nationality than in children of Hart nationality（10% vs 3%; P〈0.05）. Conelusions In Ningxia, R243Q mutation in exon 7 ofPAH gene is most common in children with PKU, followed by R241C. The frequency of R241C mutation in exon 7 of PAH gene varies between children with PKU of Hui and Han nationality.

关 键 词：苯丙氨酸羟化酶 基因突变 回族 汉族 儿童 

分 类 号：R725.9[医药卫生—儿科]