寻常鱼鳞病
遗传学
生物
鱼鳞病
突变
基因
突变试验
基因突变
人口
医学
丝状蛋白
免疫学
环境卫生
特应性皮炎
作者
Yong Gu,Minhua Shao,Xuewen Du,Ming Li,Haojie Shi,Guolong Zhang
出处
期刊:PubMed
日期:2013-06-01
卷期号:30 (3): 257-60
标识
DOI:10.3760/cma.j.issn.1003-9406.2013.03.001
摘要
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.
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