Genetical diagnosis in a congenital achondroplasia family
- VernacularTitle:先天性软骨发育不全一家系的基因诊断
- Author:
Na ZHU
;
Weiqing WANG
;
Lei JIANG
;
Lei YE
;
Wenqiang FANG
;
Yufang BI
;
Liqing GUAN
;
Yongju ZHAO
;
Guang NING
- Publication Type:Journal Article
- Keywords:
Achondroplasia, congenital;
Fibroblast growth factor receptor 3;
Mutation
- From:
Chinese Journal of Endocrinology and Metabolism
2001;0(05):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To indentify the gene mutation of fibroblast growth factor receptor 3 (FGFR3) gene in a Chinese family with congenital achondroplasia (ACH). Methods The genomic DNA from 2 clinically diagnosed ACH patients and the other 4 members from the same family was prepared for PCR. The products of PCR were purified and then sequenced directly. Results Two patients with ACH in this family showed G-A transition mutation at nucleotide 1138 as heterozygotes. Conclusion The G-A transition mutation at nucleotide 1138 in transmembrane domain of FGFR3 gene seems to be the pathologic cause of this Chinese family with ACH.
