苯丙氨酸羟化酶基因部分外显子突变研究  

Study on Mutations of Phenylalanine Hydroxylase Gene

作　　者：宋力[1] 党利亨[1] 付伯津 孟英韬[1] 顾红娟[2] 单忠敏[1] 徐凤铎[1] 

机构地区：[1]天津市儿童医院儿科研究所,300074 [2]天津市儿童保健所

出　　处：《天津医药》2003年第11期694-697,共4页Tianjin Medical Journal

基　　金：天津市自然科学基金资助项目 (项目编号 :003608311)

摘　　要：目的 :探讨苯丙酮尿症(PKU)患者PAH基因突变特点。方法 :用PCR -SSCP和PCR -DNA测序法对天津河北等地的70例无血缘关系并已确诊为PKU患者的基因组DNA进行PAH基因外显子3、5、6、7、10、11和12的突变基因分析。结果 :70例PKU患者共140条染色体 ,共发现26种突变 ,含错义突变14种、无义突变5种、同义突变4种、剪接位点突变2种和缺失突变1种。除4种同义突变外 ,阳性突变率为64.28 %。其中DelS70、R176X、R261X、L385L、IVS5nt +1g→a、A165D、G247R、Y325X、G344E和R413G占总突变种类的38.5 % (10/26)。结论 :天津河北等地的PAH基因突变类型复杂 ,有些常见突变的发生频率与以往报道的地域分布略有不同。Objective:To study the mutations of phenylalanine hydroxylase(PAH)gene in phenylketonuria(PKU)patients.Methods:Using polymerase chain reaction(PCR) with single strand conformation(SSCP)and direct sequencing techniques,exon 3,5,6,7,10,11 and 12 of PAH gene were analyzed in 70 PKU patients from Tianjin and Hebei areas of China.Results:Twenty-six kinds of mutations,including 14 missense mutations,5 nonsense mutations,4 silent mutations,2 splicing junction mutations and 1 deletion mutation,were identified.The DelS70,R176X,R261X,L385L,IVS5nt+lg→a,A165D,G247R,Y325X,G344E and R413G mutations accounted for 38.5% of total mutation patterns(10/26).Conclusion:The mutation of PAH gene has its features in Tianjin and Hebei areas.It has a little difference in frequency of some mutations with those in other areas.

关 键 词：苯丙氨酸羟化酶 基因突变 外显子 苯丙酮尿症 儿童 

分 类 号：R726.95[医药卫生—儿科] R394[医药卫生—临床医学]