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題 名 | Splice Site Mutation in the Type VII Collagen Gene (COL7A1) in a Taiwanese Family with Recessive Dystrophic Epidermolysis Bullosa=第七型膠原基因接合點突變導致一臺灣家族之隱性營業障礙性大庖性表皮鬆解症 |
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作 者 | 林高田; 陳勝凱; 劉志姍; 王文心; | 書刊名 | 臺灣醫學會雜誌 |
卷 期 | 99:9 2000.09[民89.09] |
頁 次 | 頁693-697 |
分類號 | 415.681 |
關鍵詞 | 第七型膠原基因接合點; 突變; 隱性營業障礙性大庖性表皮鬆解症; Collagen; Epidermolysis bullosa; Dystrophica; Consanguinity; Type VII collagen gene; COL7A1; |
語 文 | 英文(English) |
英文摘要 | Background and purpose: Genteralized recesive dystrophic epidermolysis bullosa (RDEB) is a severe inherited disease, in which patients suffer from blistering and scarring of the skin and mucous membranes after minor mechanical trauma. Tight genetic linkage has been established to the type VII collagen gene (COL7A1) at 3p21. The purpose of this study was to identify mutations in COL7A1 in one Taiwanese pedigree with generalized RDEB. Methods: Genomic DNA was used as the template for polymerase chain reaction (PCR)amplification of all 118 COL7A1 exons and the flanking splice junctions. PCR was followed by heteroduplex analysis of the products by single-stand conformation polymorphism (SSCP) studies, and direct nucleotide sequencing was used to search for mutations, which were verified by restriction endonuclease digestion. Results: We identified a homozygous intronic splice-site at the +1 position of intron 5 (682+1G→A) of COL7A1 in the affected individual. His parents, who were cousins, were not affected by this disease. The mother was heterozygous for the mutation; the father had died before the study, of unrelated causes. This mutation results in a frameshift and downstream stop codons on both alleles, indicating an absence of functional protein, Restriction endonuclease bspHI can be used to verify this mutation and screen other members in the same family. Conclusions: These molecular findings offer a genetic explanation for the skin fragility in this Taiwanese patient with RDEB. The immediate benefits gained by elucidating mutations in family members include the ability to assess wheter they are carriers of this disease and the ability to use this DNA-based method for prenatal testing in subsequent pregnancies. |
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