Genetical diagnosis in a congenital achondroplasia family / 中华内分泌代谢杂志
Chinese Journal of Endocrinology and Metabolism
;
(12)2001.
Article
Dans Chinois
| WPRIM
| ID: wpr-540240
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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Type d'étude:
Etude diagnostique
langue:
Chinois
Texte intégral:
Chinese Journal of Endocrinology and Metabolism
Année:
2001
Type:
Article
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