Analysis of Taiwanese ichthyosis vulgaris families further demonstrates differences in FLG mutations between European and Asian populations
Analysis of Taiwanese ichthyosis vulgaris families further demonstrates differences in FLG mutations between European and Asian populations
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DOI：
10.1111/j.1365-2133.2009.09112.x
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发表时间：
2009-08-01
影响因子：
10.3
通讯作者：
Shimizu, H.
中科院分区：
文献类型：
--
作者：
Hsu, C-K.;Akiyama, M.;Shimizu, H.
研究背景编码聚丝蛋白（filaggrin，FLG）的基因突变被鉴定为寻常型鱼鳞病（IV）的基础，也被证明易患特应性湿疹。到目前为止，没有FLG突变已被描述在Taiwan population.ObjectivesTo阐明在台湾人口中的聚丝蛋白突变，并进一步澄清在亚洲population.MethodsIn本研究中，12个人从四个无关的台湾IV家庭FLG突变进行了检查的群体遗传学的聚丝蛋白基因突变。我们进行了全面测序的整个FLG编码区使用重叠的聚合酶链反应strategy.ResultsWe确定了三个FLG突变在台湾IV家庭。其中E1795X突变是一种以前未发现的FLG突变，可能是台湾人特有的。有趣的是，另一个FLG突变3321delA在日本人群中普遍存在，另一个突变Q2417X在新加坡华人人群中发现。在台湾population.ConclusionsThe目前的研究结果表明，台湾人口，作为一个东亚组，共享FLG突变与日本和新加坡华人人口的白色欧洲人口中没有发现FLG突变。此外，这些结果揭示了丝聚蛋白在欧洲和亚洲之间的群体遗传学差异。
BackgroundMutations in the gene encoding filaggrin (FLG) were identified to underlie ichthyosis vulgaris (IV) and also shown to predispose to atopic eczema. Until now, no FLG mutations have been described in the Taiwanese population.ObjectivesTo elucidate filaggrin mutations in the Taiwanese population and further to clarify the population genetics of filaggrin gene mutations in the Asian populations.MethodsIn the present study, 12 individuals from four unrelated Taiwanese IV families were examined for FLG mutations. We carried out comprehensive sequencing of the entire FLG coding region using an overlapping polymerase chain reaction strategy.ResultsWe identified three FLG mutations in the Taiwanese IV families. One mutation E1795X was a previously unidentified FLG mutation, which might be specific to the Taiwanese. Interestingly, another FLG mutation 3321delA is prevalent in the Japanese population and the other mutation Q2417X was found in the Singaporean Chinese population. No FLG mutation identified in the white European population was found in the Taiwanese population.ConclusionsThe present findings suggest that the Taiwanese population, as an East Asian group, share FLG mutations with both the Japanese and the Singaporean Chinese population. In addition, these results exemplify differences in the population genetics of filaggrin between Europe and Asia.