[宁夏35例回族苯丙酮尿症患儿苯丙氨酸羟化酶基因突变分析]

[Analysis for phenylalanine hydroxylase gene mutations in 35 ethnic Hui children from Ningxia with phenylketonuria].

作者信息

Mao Xinmei, He Jiang, Liu Yuan, Li Xiaoqiang, Yu Wuzhong

机构信息

Maternal and Child Health Hospital of Ningxia Hui Autonomous Region, Yinchuan, Ningxia 750004, P.R. China.

出版信息

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Feb;31(1):6-10. doi: 10.3760/cma.j.issn.1003-9406.2014.01.002.

DOI:10.3760/cma.j.issn.1003-9406.2014.01.002

PMID:24510552

Abstract

OBJECTIVE

To determine the type and frequency of phenylalanine hydroxylase gene (PAH) mutations in ethnic Hui patients from Ningxia with phenylketonuria (PKU).

METHODS

For 35 PKU children patients and 50 healthy individuals, all exons and promoters of the PAH gene were analyzed with PCR and direct sequencing.

RESULTS

Twenty mutations, including 8 missense mutations (40%), 5 nonsense mutations (25%), 4 splice site mutations (20%) and 3 deletion mutants (15%) were discovered. The overall detection rate was 68.57% (48/70). Common mutations have included R243Q (12.86%), R241C (11.43%), EX6-96A to G (5.71%), Y356X (5.71%), R413P(4.29%) and Q232X(4.29%), whilst rarer ones have included S16fsX10 (2.86%), R111X (2.86%) and L430P (2.86%). Among these, S16fsX10, L430P, D222G and IVS11+ 1G to A have not been reported previously. Y414X and S303fsX38 have not been reported in Hui ethnic group. No mutation was detected in the 50 normal controls.

CONCLUSION

The types and distribution of PAH gene mutations in ethnic Hui from Ningxia have been different from other areas of China. The mutations also showed a rich diversity.

摘要

目的

确定宁夏回族苯丙酮尿症（PKU）患者苯丙氨酸羟化酶基因（PAH）突变的类型及频率。

方法

对35例PKU儿童患者和50例健康个体，采用聚合酶链反应（PCR）及直接测序法分析PAH基因的所有外显子和启动子。

结果

共发现20种突变，其中错义突变8种（40%），无义突变5种（25%），剪接位点突变4种（20%），缺失突变3种（15%）。总检出率为68.57%（48/70）。常见突变包括R243Q（12.86%）、R241C（11.43%）、EX6 - 96A→G（5.71%）、Y356X（5.71%）、R413P（4.29%）和Q232X（4.29%），罕见突变包括S16fsX10（2.86%）、R111X（2.86%）和L430P（2.86%）。其中，S16fsX10、L430P、D222G和IVS11 + 1G→A此前未见报道。Y414X和S303fsX38在回族人群中未见报道。50例正常对照未检测到突变。