FGFR3基因G1138A突变导致软骨发育不全

被引：4

作者：

何书励

夏维波

孙悦

邢小平

李梅

王鸥

姜艳

胡莹莹

机构：

[1] 中国医学科学院北京协和医院内分泌科卫生部内分泌重点实验室

来源：

中国实用内科杂志 | 2010年 / 30卷 / 10期

关键词：

软骨发育不全; 成纤维细胞生长因子受体3; 突变;

D O I：

暂无

中图分类号：

R726.8 [小儿骨科学];

学科分类号：

100202 ;

摘要：

目的对一例临床诊断为软骨发育不全(ACH)的患者及其父母的成纤维细胞生长因子受体3(FGFR3)进行基因突变检测。方法提取患者及其家庭成员外周血DNA,对FGFR3基因的全部编码氨基酸外显子及相邻内含子区设计引物,进行PCR扩增,并对扩增产物进行测序。结果 FGFR3基因第10外显子发生了cDNA第1138位G到A的转换,使得其所编码蛋白FGR3的第380位氨基酸由甘氨酸变为精氨酸。结论 FGFR3基因的G1138A杂合突变为该患者发病的原因,进一步说明了该突变为热点突变。

引用

页码：907 / 909

页数：3

共 8 条

[1]

FGFR3 promotes syn-chondrosis closure and fusion of ossification centers through theMAPK pathway. Matsushita T,Wilcox WR,Chan YY,et al. Human Molecular Genetics . 2009

[2]

The birth prevalence rates forthe skeletal dysplasias. Orioli IM,Castilla EE,Barbosa-Neto JG. Journal of Medical Genetics . 1986

[3]

Developmental expression of splicing variants of fibroblast growth factor receptor 3 (FGFR3) in mouse. Wuechner C,Nordqvist AC,Winterpacht A,et al. The International Journal of Developmental Biology . 1996

[4]

A gene encoding a fibroblast growth factor receptor isolated from the Huntington disease gene region of human chromosome 4. Thompson LM,Plummer S,Schalling M,et al. Genomics . 1991

[5]

Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3. Colvin J S,Bohne B A,Harding G W,et al. Nature Genetics . 1996

[6]

Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Shiang R,Thompson LM,Zhu YZ,et al. Cell . 1994

[7]

Isolation of an additional member of the fibroblast growth factor receptor family, FGFR-3. Keegan K,Johnson DE,Williams LT,et al. Proceedings of the National Academy of Sciences of the United States of America . 1991

[8]

Achondroplasia is defined by recurrent G380R mutations of FGFR3. Bellus G A,Hefferon T W,Ortiz de Luna R I,et al. The American Journal of Human Genetics . 1995

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