本文選題：角膜營養(yǎng)不良　切入點(diǎn)：基因突變　出處：《安徽醫(yī)科大學(xué)學(xué)報(bào)》2014年07期 　論文類型：期刊論文

【摘要】：目的對(duì)一顆粒狀角膜營養(yǎng)不良(GCD)家系進(jìn)行BIGH3基因突變篩查,以確定其致病基因。方法收集一常染色體顯性遺傳的GCD家系,提取該家系患者及正常者的DNA,通過聚合酶鏈?zhǔn)椒磻?yīng)(PCR)擴(kuò)增BIGH3基因的目的片段,純化后直接測序,用DNAStar軟件分析測序結(jié)果,檢測其BIGH3基因突變的類型。結(jié)果該家系患者均檢測出第4外顯子的R124H突變(CGCCAC),而家系中的正常者及50例正常對(duì)照者的BIGH3基因中均未發(fā)現(xiàn)該突變。家系成員都檢測出第11、12外顯子的同義單核苷酸多態(tài)性(SNP)。通過基因檢測,確定該家系角膜營養(yǎng)不良的分型,即為GCDⅡ型,又稱Avellino角膜營養(yǎng)不良(ACD)。結(jié)論 BIGH3基因突變導(dǎo)致了該家系角膜營養(yǎng)不良患者的角膜病變,突變類型為R124H雜合突變。
[Abstract]:Objective to screen the mutation of BIGH3 gene in a family with granular corneal dystrophy. Methods an autosomal dominant GCD family was collected. The target fragment of BIGH3 gene was amplified by polymerase chain reaction (PCR) and sequenced directly. The results were analyzed by DNAStar software. Results the R124H mutation of exon 4 was detected in all the patients, but no mutation was found in the BIGH3 gene of the normal pedigree and 50 normal controls. The synonymous single nucleotide polymorphisms of exon 1112 were detected by genetic analysis. The type of corneal dystrophy in this pedigree was identified as GCD 鈪，

本文編號(hào)：1572699