本文選題：營(yíng)養(yǎng)不良型大皰性表皮松解癥 + COLA基因�。� 參考：《中國(guó)皮膚性病學(xué)雜志》2016年09期

【摘要】：目的分析常染色體顯性遺傳的營(yíng)養(yǎng)不良型大皰性表皮松解癥(DDEB)1家系的致病基因COL7A1基因突變位點(diǎn),并在此基礎(chǔ)上探討產(chǎn)前診斷的可行性。方法采用聚合酶鏈擴(kuò)增反應(yīng)及雙向直接測(cè)序的方法對(duì)DDEB家系中2例不同表型的患者進(jìn)行COL7A1基因突變檢測(cè),以家系中的2例健康者及50例無(wú)親緣關(guān)系的健康個(gè)體作對(duì)照。確定致病突變后,對(duì)家系中的2例高危胎兒分別進(jìn)行了產(chǎn)前遺傳學(xué)分析和胎兒絨毛組織DNA產(chǎn)前診斷。結(jié)果該家系2名不同表型患者COL7A1基因的87號(hào)外顯子第6859位堿基鳥嘌呤G被腺嘌呤A替代(c.6859GA,p.Gly2287Arg),家系中健康對(duì)照及無(wú)親緣關(guān)系的健康個(gè)體均未發(fā)現(xiàn)該突變。先證者姐姐懷孕4周,被證明未攜帶致病突變,繼續(xù)妊娠并誕生一個(gè)健康男嬰。先證者配偶懷孕11周,產(chǎn)前診斷胎兒攜帶與患者相同的突變。先證者夫婦選擇治療性引產(chǎn)術(shù)后,取胎兒皮膚標(biāo)本行基因診斷,結(jié)果與產(chǎn)前診斷相同。結(jié)論甘氨酸替代突變c.6859GA,(p.Gly2287Arg)是該DDEB家系的致病原因,同一家系患者呈現(xiàn)不同表型。COL7A1基因分析可以快速且準(zhǔn)確地進(jìn)行DDEB的基因診斷和產(chǎn)前診斷,有利于指導(dǎo)生育健康后代。
[Abstract]:Objective to analyze the mutation site of COL7A1 gene in an autosomal dominant dystrophy type epidermolysis bullosa (DDEB) family, and to explore the feasibility of prenatal diagnosis. Methods Polymerase chain reaction (PCR) and bidirectional direct sequencing were used to detect COL7A1 gene mutation in 2 DDEB families with different phenotypes, 2 healthy individuals and 50 unrelated healthy individuals were used as controls. After identifying the pathogenic mutation, two high-risk fetuses in the family were analyzed for prenatal genetics and prenatal diagnosis of fetal chorionic DNA. Results this mutation was replaced by adenine A (c. 6859 GAp.Gly2287Arg) at exon 6859 of COL7A1 gene in two patients with different phenotypes. The mutation was not found in healthy controls and unrelated healthy individuals. The proband sister, who was 4 weeks pregnant, was found not to carry a mutation, continued pregnancy and gave birth to a healthy baby boy. The proband's spouse is 11 weeks pregnant and the prenatal diagnosis of the fetus carries the same mutation as the patient. The proband and his wife chose the therapeutic induction of labor after operation, take the fetal skin samples for gene diagnosis, the results are the same as prenatal diagnosis. Conclusion glycine substitution mutation c.6859GA (p.Gly2287Arg) is the causative cause of DDEB. The gene analysis of different phenotypes of .COL7A1 in the same family can quickly and accurately diagnose DDEB gene and prenatal diagnosis, which is helpful to guide healthy offspring.
【作者單位】： 浙江大學(xué)醫(yī)學(xué)院附屬第一醫(yī)院皮膚科;浙江大學(xué)醫(yī)學(xué)院附屬第一醫(yī)院北侖分院皮膚科;浙江大學(xué)醫(yī)學(xué)院附屬婦產(chǎn)醫(yī)院檢驗(yàn)科;深圳市南山人民醫(yī)院皮膚科;
【基金】：國(guó)家自然科學(xué)基金(30800989,81271743) 浙江省公益性技術(shù)應(yīng)用研究計(jì)劃項(xiàng)目(2014C33193)
【分類號(hào)】：R758.59

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