Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2010
[FGFR2 gene mutation in a Chinese patient with Apert syndrome].
Клинический случайСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Dai Li, Li Na-na, Yuan Yu-mei, Liu Yong, Zhu Jun
Аннотация
OBJECTIVE: To determine the disease-causing mutation in a Chinese patient with Apert syndrome (AS).
METHODS: Genomic DNA was extracted from peripheral blood samples of the AS patient and his parents. Polymerase chain reaction (PCR) was used to amplify the exons 7 and 9 of fibroblast growth factor receptor 2 (FGFR2) gene. Then PCR products were sequenced bi-directionally.
RESULTS: A heterozygous 934C to G transversion in exon 7 of the FGFR2 gene was detected in the patient, which resulted in the substitution of tryptophan residue for serine at position 252 of FGFR2 protein (S252W). This mutation has been reported in AS patients previously.
CONCLUSION: This Chinese AS results from the 934 C to G mutation in exon 7 of FGFR2 gene.
METHODS: Genomic DNA was extracted from peripheral blood samples of the AS patient and his parents. Polymerase chain reaction (PCR) was used to amplify the exons 7 and 9 of fibroblast growth factor receptor 2 (FGFR2) gene. Then PCR products were sequenced bi-directionally.
RESULTS: A heterozygous 934C to G transversion in exon 7 of the FGFR2 gene was detected in the patient, which resulted in the substitution of tryptophan residue for serine at position 252 of FGFR2 protein (S252W). This mutation has been reported in AS patients previously.
CONCLUSION: This Chinese AS results from the 934 C to G mutation in exon 7 of FGFR2 gene.