内蒙古地区苯丙酮尿症苯丙氨酸羟化酶基因突变的检测  

Determination of phenylalanine hydroxylasegene mutation of phenylketonuria in Inner Mongolia

作　　者：张军力[1] 孟峻[1] 翟晓萍[2] 方根[2] 高建钢[1] 史珉[1] 王永祥[1] 

机构地区：[1]内蒙古医学院第一附属医院检验科,呼和浩特010050 [2]内蒙古血液中心

出　　处：《中华检验医学杂志》2004年第3期144-147,共4页Chinese Journal of Laboratory Medicine

基　　金：内蒙古自治区卫生厅医药卫生科研基金资助( 981118)

摘　　要：目的　了解内蒙古地区苯丙酮尿症 (PKU)病人苯丙氨酸羟化酶 (PAH)基因突变类型和频率。方法　采用聚合酶链反应 (PCR)扩增 ,单链构象多态性分析 (SSCP)、DNA直接测序的方法 ,对内蒙古地区 2 2个PKU家系PAH基因外显子 3、5、6、7、1 0、1 1、1 2 ,进行检测分析。结果　检出 1 0种苯丙氨酸羟化酶基因的点突变。R2 4 3Q (8/44 )、R2 5 2Q (1 /44 )、R2 6 1Q (1 /44 )、G2 39D (1 /44 )、IVS7nt(2 ) (1 /44 )、Y2 0 4C(5 /44 )、Y35 6X(6 /44 )、R4 1 3P(1 /44 )、R1 1 1X(1 /44 )、Y1 6 1S(1 /44 ) ,经检索国际PAH基因突变数据统计库 ,确认G2 39D(G→A)为首次发现的新突变。结论　R2 4 3Q、Y35 6X、Y2 0 4C是内蒙地区人群中PAH基因的主要突变位点。以Y35 6X的突变率明显高于、R4 1 3P低于北方人群为特征。Objective To determine gene mutation types and frequency of phenylalanine hydroxylase (PAH) phenylketonuria(PKU) patients in Inner Mongolia Methods Exon 3 ?5?6?7?10?11 and 12 of the phenylalanine hydroxylase (PAH) gene was detected in 22 PKU patients from inner Mongolia by using PCR single strand conformation polymorphism (PCR SSCP) technique and DNA direct sequencing Results Ten point mutation type were identified the frequencies of mutation were R243Q(8/44)?R252Q(1/44)?R261Q(1/44)?G239D(1/44)?IVS7nt(2)(1/44)?Y204C(5/44)?Y356X(6/44)?R413P(1/44)?R111X(1/44) respectively a novel mutation G239D(G→A) was demonstrated in comparison with the PAH gene mutation Database Conclusion R243Q?Y356X?Y204C were most frequency mutation in Inner Mongolia The mutation frequency of Y356X is higher, R413P is lower than Northern people

关 键 词：苯丙酮尿症 苯丙氨酸羟化酶 基因突变 检测 聚合酶链反应 

分 类 号：R446.9[医药卫生—诊断学]