Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2014
[Identification of a novel splicing mutation in COL1A1 gene in a Chinese family affected with typeⅠosteogenesis imperfecta].
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Song Yinsen, Jin Xiangdong, Kong Jinghui, Zhao Ding, Guo Zhenxin
Аннотация
OBJECTIVE: To investigate the genetic cause for a large family affected with typeⅠosteogenesis imperfecta.
METHODS: Genomic DNA was extracted from peripheral venous blood samples. The entire coding region and intron-exon boundaries of the COL1A1 gene were subjected to PCR amplification and direct sequencing. Total RNA was also extracted from immortalized B cell lines from the patients, with the first strand of cDNA synthesized with an oligo(dT)18 primer. The PCR products were directly sequenced using the TA cloned plasmid.
RESULTS: A c.3208G>A mutation has been identified in the COL1A1 gene, which can alter the splicing pattern of mRNA.
CONCLUSION: A novel splicing mutation c.3208G>A of the COL1A1 gene probably underlies the disease.
METHODS: Genomic DNA was extracted from peripheral venous blood samples. The entire coding region and intron-exon boundaries of the COL1A1 gene were subjected to PCR amplification and direct sequencing. Total RNA was also extracted from immortalized B cell lines from the patients, with the first strand of cDNA synthesized with an oligo(dT)18 primer. The PCR products were directly sequenced using the TA cloned plasmid.
RESULTS: A c.3208G>A mutation has been identified in the COL1A1 gene, which can alter the splicing pattern of mRNA.
CONCLUSION: A novel splicing mutation c.3208G>A of the COL1A1 gene probably underlies the disease.