【摘要】 目的在中国寻常型鱼鳞病患者中验证FLG基因已知的突变,并期望发现FLG基因新的变异。方法收集4个寻常型鱼鳞病家系与95份散发病例的外周静脉血,并采集52名无血缘关系健康志愿者的外周静脉血,采用PCR及DNA直接测序的方法,对已报道的FLG基因18个突变位点进行检测。结果发现了7个频发致病突变,包括4个无义突变E2422X、Q2417X、R2447X和R4307X及3个移码突变441delA、1249in-sG和7945delA,并发现FLG基因3个新的变异Q1790X、Q1745X和7877delC。结论寻常型鱼鳞病存在明显的遗传异质性,中国寻常型鱼鳞病患者在FLG基因上有其特异的突变位点。更多还原

【Abstract】 【Objective】To elucidate the mutations in the filaggrin gene in Chinese patients with ichthyosis vulgaris,and to find novel variants in the filaggrin gene.【Methods】Venous blood samples were collected from four unrelated IV families,95 sporadic cases,and 52 unaffected family members.18 known filaggrin mutations were detected by Polymerase Chain Reaction(PCR) and DNA sequencing.【Results】We identified seven recurrent mutations in these patients,E2422X,Q2417X,R2447X,R4307X,441delA,1249insG and 7945delA;in addition,we identified three unique mutations in Chinese patients with ichthyosis vulgaris,and all the variants are either nonsense or frameshift mutations that,they are Q1745X,Q1790X and 7877delC.This is the first report of FLG mutations in our Chinese population.【Conclusion】Our data indicate that there is obvious genetic heterogeneity in ichthyosis vulgaris,and FLG mutations in Chinese patients with ichthyosis vulgaris are unique from those found in other populations.更多还原