Gu Yong, Shao Minhua, Du Xufeng, Li Ming, Shi Hejian, Zhang Guolong
Department of Dermatology, Nanjing Medical University, Affiliated Wuxi People's Hospital, Wuxi, Jiangsu 214023, P.R. China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Jun;30(3):257-60. doi: 10.3760/cma.j.issn.1003-9406.2013.03.001.
To detect FLG gene mutations in 10 families affected with ichthyosis vulgaris and to explore mutational hot spot of the FLG gene in Chinese Han population.
PCR and direct sequencing were carried out to identify potential mutations of the FLG gene in above families. One hundred healthy individuals were analyzed as normal controls.
Three mutations (3321delA, 5757delCCAG and S2706X) were identified in 7 families. A homozygous mutation 3321delA was also detected in two unrelated patients. No mutations were found in the remaining three families. Neither of the null mutations (5757delCCAG and S2706X) was found in the 100 controls. However, for 3321delA, a heterozygous mutation was also found in two of the controls.
Three FLG mutations have been identified in the selected families with ichthyosis vulgaris, and the 3321delA mutation was most prevalent (46.9%). Mutations 5757delCCAG and S2706X were first found in patients with ichthyosis vulgaris. Other candidate genes may underlie the disease in those without a FLG mutation.
检测10个寻常型鱼鳞病家系中FLG基因突变情况，探索中国汉族人群中FLG基因的突变热点。
采用聚合酶链反应（PCR）及直接测序法对上述家系中FLG基因的潜在突变进行鉴定。选取100名健康个体作为正常对照进行分析。
在7个家系中鉴定出3种突变（3321delA、5757delCCAG和S2706X）。在2例无亲缘关系的患者中还检测到纯合突变3321delA。其余3个家系未发现突变。在100名对照中均未发现无效突变（5757delCCAG和S2706X）。然而，对于3321delA，在2名对照中也发现了杂合突变。
在所选择的寻常型鱼鳞病家系中鉴定出3种FLG基因突变，其中3321delA突变最为常见（46.9%）。5757delCCAG和S2706X突变首次在寻常型鱼鳞病患者中发现。在无FLG基因突变的患者中，可能存在其他致病相关基因。
