[Mutation analysis of fibroblast growth factor receptor 3 gene in an achondroplasia family].
OBJECTIVE
To clarify the patients' pathogenic mechanism in an achondroplasia family not according with the genetic law of autosomal dominant inheritance disease at gene level.


METHODS
Genomic 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.


RESULTS
A new mutation of A to T at nucleotide 1180 was found in patients but not in unaffected members.


CONCLUSIONS
Combined with pedigree analysis, it was summarized that achondroplasia patients in this family might result from this new mutation.
Zhu
Bin
B
Division of Medical Genetics, Suzhou University, Suzhou, Jiangsu, 215007 PR China. zhubin63@163.com
Dong
Qiu-ming
QM
Huang
Xing-hua
XH
Ji
Guo-qing
GQ
Chen
Ying
Y
Wang
Wen-xing
WX
Jiang
Hai-yan
HY
Gao
Jin-sheng
JS
D000130:Achondroplasia / Q000235:genetics* / Q000473:pathology; D001483:Base Sequence; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*
D017468:Receptors, Fibroblast Growth Factor; D004247:DNA; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3