Mutation analysis of fibroblast growth factor receptor 3 gene in an achondroplasia family / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 373-375, 2003.
Article
in Chinese
| WPRIM
| ID: wpr-329456
ABSTRACT
<p><b>OBJECTIVE</b>To clarify the patients' pathogenic mechanism in an achondroplasia family not according with the genetic law of autosomal dominant inheritance disease at gene level.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>A new mutation of A to T at nucleotide 1180 was found in patients but not in unaffected members.</p><p><b>CONCLUSION</b>Combined with pedigree analysis, it was summarized that achondroplasia patients in this family might result from this new mutation.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pathology
/
Pedigree
/
Achondroplasia
/
Protein-Tyrosine Kinases
/
DNA
/
DNA Mutational Analysis
/
Base Sequence
/
Chemistry
/
Family Health
/
Receptors, Fibroblast Growth Factor
Type of study:
Prognostic study
Limits:
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2003
Type:
Article
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