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Genotype-phenotype correlations in Chinese patients with tgfbi gene-linked corneal dystrophy

Journal of Zhejiang University-Science B(Biomedicine & Biotechnology) 2011年第4期12卷 287-292页

作者： Yan LONG Yang-shun GU Wei HAN Xiu-yi LI Ping YU Ming QI Department of Ophthalmology the First Affiliated Hospital School of Medicine Zhejiang University Hangzhou 310003 China Department of Medical genetics School of Medicine Zhejiang University Hangzhou 310029 China

In this paper,we report the clinical and molecular features of the distinct tgfbi (human transforming growth factor β-induced,OMIM No.601692) gene-linked corneal ***,five pedigrees and ten unrelated individuals diagnosed as corneal dystrophy were *** venous DNA was extracted,and then amplified by polymerase chain reaction (PCR) and scanned for mutation by single-stranded conformation polymorphism (SSCP).Direct DNA sequencing was used to analyze the mutations of the tgfbi *** our study,thirty patients from five pedigrees and ten sporadic patients were diagnosed as four tgfbi gene-linked corneal dystrophies of granular corneal dystrophy type I (GGCD I),Avellino corneal dystrophy (ACD),lattice corneal dystrophy type I (LCD I),and lattice corneal dystrophy type ⅢA (LCD IIIA),and in total,seven disease-causing mutations,namely R555W,A546D,A546T,and T538P mutations in exon 12,R124H and R124C mutations in exon 4,and P501T mutation in exon 11,were identified,while four polymorphisms of V327V,L472L,F540F,and 1665-1666insC were screened in exons 8,11,and *** study ascertained the tight genotype-phenotype relationship and confirmed the clinical and genetic features of four tgfbi gene-linked corneal dystrophies.

关键词： tgfbi gene Corneal dystrophy Genotype Phenotype Mutation

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tgfbi and CHST6 gene analysis in Chinese stromal corneal dystrophies

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International Journal of Ophthalmology(English edition) 2012年第3期5卷 301-306页

作者： Yin Li Tuo Li Xiu-Sheng Song Jia-Zhang Li Qing-Song Wu and Hong-Yan Li Department of Ophthalmology Central Hospital of Enshi Autonomous Prefecture Enshi Autonomous Prefecture 445000 Hubei Province China

AIM:To investigate whether mutations in tgfbi gene or CHST6 gene correlated with stromal corneal dystrophies(CD) in 8 Chinese probands.· METHODS:Eight unrelated patients with stromal corneal dystrophies were recruited in this study;all affected members were assessed by completely ophthalmologic *** DNA was extracted from peripheral leukocytes,17 exons of tgfbi gene and the exon of CHST6 gene were amplified by polymerase chain reaction(PCR),sequenced directly and compared with the reference database.· RESULTS:Three heterozygous mutations in tgfbi gene were identified in six patients:c.370C>T(***124Cys) was found in exon 4 of tgfbi gene in three members,c.371G>A(***124His) was found in one patient;c.1663C>T(***555Trp) was found in exon 12 in other two *** addition,four polymorphisms with the nucleotide changes rs1442,rs1054124,rs4669,and rs35151677 were found in tgfbi *** were not identified in the rest of 2 affected individuals in tgfbi gene or CHST6 gene.· CONCLUSION:Within these patients,R124C,R124H and R555W mutations were co-segregated with the disease phenotypes and were specific mutations for lattice corneal dystrophy type I(LCD I),Avellino corneal dystrophy(ACD,GCDⅡ),granular corneal dystrophy type I(GCD I),*** study highlights the prevalence of codon 124 and codon 555 mutations in the tgfbi gene among the Chinese stromal corneal dystrophies patients.·

关键词： corneal dystrophies Mutation screening tgfbi gene tgfbi protein carbohydrate sulfotransferse CHST6

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