Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2003
[Mutation analysis of fibroblast growth factor receptor 3 gene in an achondroplasia family].
Аннотация на английскомСтатьяНазвание и аннотация: Перевод в очереди
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Zhu Bin, Dong Qiu-ming, Huang Xing-hua, Ji Guo-qing, Chen Ying, Wang Wen-xing, Jiang Hai-yan, Gao Jin-sheng
Аннотация
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.
CONCLUSION: Combined with pedigree analysis, it was summarized that achondroplasia patients in this family might result from this new mutation.
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.
CONCLUSION: Combined with pedigree analysis, it was summarized that achondroplasia patients in this family might result from this new mutation.