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

毛新梅; 何江; 刘媛; 李晓强; 余伍忠; 高治会; 蔡晶

doi:10.7499/j.issn.1008-8830.2014.03.008

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中国当代儿科杂志 ›› 2014, Vol. 16 ›› Issue (3) : 259-262. DOI: 10.7499/j.issn.1008-8830.2014.03.008

论著·临床研究

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

毛新梅¹, 何江², 刘媛¹, 李晓强¹, 余伍忠², 高治会¹, 蔡晶¹

作者信息 +

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

MAO Xin-Mei¹, HE Jiang², LIU Yuan¹, LI Xiao-Qiang¹, YU Wu-Zhong², GAO Zhi-Hui¹, CAI Jing¹

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文章历史 +

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。

Abstract

Objective To investigate the type and frequency of mutations in exon 7 of phenylalanine 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 Han nationality(10% vs 3%; P<0.05). Conclusions In Ningxia, R243Q mutation in exon 7 of PAH 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.

导出引用

毛新梅, 何江, 刘媛, 李晓强, 余伍忠, 高治会, 蔡晶. 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[J]. 中国当代儿科杂志. 2014, 16(3): 259-262 https://doi.org/10.7499/j.issn.1008-8830.2014.03.008

MAO Xin-Mei, HE Jiang, LIU Yuan, LI Xiao-Qiang, YU Wu-Zhong, GAO Zhi-Hui, CAI Jing. Analysis of mutations in exon 7 of phenylalanine hydroxylase gene among children with phenylketonuria in Ningxia, China[J]. Chinese Journal of Contemporary Pediatrics. 2014, 16(3): 259-262 https://doi.org/10.7499/j.issn.1008-8830.2014.03.008

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