Mutation analysis of fibroblast growth factor receptor 3 gene in an achondroplasia family.
- Author:
Bin ZHU
1
;
Qiu-ming DONG
;
Xing-hua HUANG
;
Guo-qing JI
;
Ying CHEN
;
Wen-xing WANG
;
Hai-yan JIANG
;
Jin-sheng GAO
Author Information
- Publication Type:Journal Article
- MeSH: Achondroplasia; genetics; pathology; Base Sequence; DNA; chemistry; genetics; DNA Mutational Analysis; Family Health; Female; Humans; Male; Middle Aged; Mutation; Pedigree; Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor; genetics
- From: Chinese Journal of Medical Genetics 2003;20(5):373-375
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo clarify the patients' pathogenic mechanism in an achondroplasia family not according with the genetic law of autosomal dominant inheritance disease at gene level.
METHODSGenomic DNA from peripheral blood of all members in this family was used for amplification of the exon 10 of fibroblast growth factor receptor 3(FGFR3) gene by PCR; mutation was detected by DNA sequencing and identified by restriction endonuclease MaeIII.
RESULTSA new mutation of A to T at nucleotide 1180 was found in patients but not in unaffected members.
CONCLUSIONCombined with pedigree analysis, it was summarized that achondroplasia patients in this family might result from this new mutation.
