Background and Objective Marfan syndrome,a variable and heritable disorder of fibrous connective tissue,characterized by affecting skeletal,ocular and cardiovascular systems.With the research advancement of genetic me...Background and Objective Marfan syndrome,a variable and heritable disorder of fibrous connective tissue,characterized by affecting skeletal,ocular and cardiovascular systems.With the research advancement of genetic mechanism,the diagnosis of Marfan syndrome,based on clinical manifestations and genetic evidence,is more accurate.The aim of this study is identification of genetic pathogenesis in a Chinese family.展开更多
Objective To report the clinical features and the screening Results of the pathogenic gene in type 2 Marfan syndrome patients,and the relationship between the transmembrane domain of TGFBR2 gene and the clinical pheno...Objective To report the clinical features and the screening Results of the pathogenic gene in type 2 Marfan syndrome patients,and the relationship between the transmembrane domain of TGFBR2 gene and the clinical phenotype.Methods The FBN1 and TGFBR2 genes were sequenced in the genomic DNA by Sanger sequence of type 2 Marfan syndrome pedigrees,and the protein structure prediction and genotype phenotypic analysis of the TGFBR2 gene transmembrane domain termination mutation were carried out.展开更多
Objective causing mutation in a Marfan syndrome(MFS)family with a proband,and to establish genotype-phenotype correlations.Methods Genomic DNA from peripheral blood leukocytes of a Chinese Marfan syndrome familial wer...Objective causing mutation in a Marfan syndrome(MFS)family with a proband,and to establish genotype-phenotype correlations.Methods Genomic DNA from peripheral blood leukocytes of a Chinese Marfan syndrome familial were isolated and screened for fibrillin-1(FBN1)mutations by direct sequencing,and a genotypephenotype study was carried out following a review of the literature on mutations in the searched area.展开更多
文摘Background and Objective Marfan syndrome,a variable and heritable disorder of fibrous connective tissue,characterized by affecting skeletal,ocular and cardiovascular systems.With the research advancement of genetic mechanism,the diagnosis of Marfan syndrome,based on clinical manifestations and genetic evidence,is more accurate.The aim of this study is identification of genetic pathogenesis in a Chinese family.
文摘Objective To report the clinical features and the screening Results of the pathogenic gene in type 2 Marfan syndrome patients,and the relationship between the transmembrane domain of TGFBR2 gene and the clinical phenotype.Methods The FBN1 and TGFBR2 genes were sequenced in the genomic DNA by Sanger sequence of type 2 Marfan syndrome pedigrees,and the protein structure prediction and genotype phenotypic analysis of the TGFBR2 gene transmembrane domain termination mutation were carried out.
文摘Objective causing mutation in a Marfan syndrome(MFS)family with a proband,and to establish genotype-phenotype correlations.Methods Genomic DNA from peripheral blood leukocytes of a Chinese Marfan syndrome familial were isolated and screened for fibrillin-1(FBN1)mutations by direct sequencing,and a genotypephenotype study was carried out following a review of the literature on mutations in the searched area.
