一对先天性大疱性鱼鳞病样红皮病双胞胎患者表型与角蛋白1基因突变研究
Analysis of keratin 1 gene mutation and phenotypes in a pair of twins with bullous congenital ichthyosiform erythroderma
目的 检测先天性大疱性鱼鳞病样红皮病双胞胎患者角蛋白1、10(KRT1、KRT10)基因突变情况,探讨致病基因与表型间的关系.方法 收集1对先天性大疱性鱼鳞病样红皮病双胞胎患者及家族成员的临床资料.提取该双胞胎患者及其兄、父、母的外周血DNA,PCR扩增KRT1和KRT10基因编码区全部外显子及其侧翼序列并测序,以100例健康人作为对照.结果 先证者男,11岁,全身皮肤反复起水疱、肥厚伴脱屑11年;其双胞胎弟弟有类似皮损.2例患者KRT1基因1号内含子第1位碱基发生突变(c.591+ 1G> A),而家系中3例正常成员和无亲缘关系的100例健康对照均未发现该突变.结论 KRT1基因1号内含子第1位碱基突变(c.591+ 1G> A)可能为引起该双胞胎患者临床表型的病因.
更多Objective To identify mutations in keratin genes (KRT1 and KRT10) in a pair of twins with bullous congenital ichthyosiform erythroderma (BCIE),and to explore the relationship between the causative genes and phenotypes.Methods Clinical data were collected from a pair of twins with BCIE and their family members.Peripheral blood samples were obtained from the twins,their old brother and parents,and DNA was extracted from these blood samples.Polymerase chain reaction (PCR)was performed to amplify all the coding exons and their flanking sequences of the KRT1 and KRT10 genes,and 100 unrelated healthy persons served as controls.Results The 11-year-old male proband presented with recurrent blisters,hypertrophy and desquamation all over the body for 11 years.His twin brother had similar skin lesions.Skin examination of the proband showed diffuse erythema covered with thick scaly crusts on the trunk and extremities.Blisters,bullae and erosions due to ruptured blisters were observed locally with tenderness on palpation.There were obvious hyperkeratotic and hard lesions on the big joints of the extremities.Diffuse hyperkeratosis could be seen on the palms and soles.A mutation c.591 + 1G > A was identified at position 1 in intron 1 of the KRT1 gene in the twins,but not in the 3 healthy family members or the 100 unrelated healthy controls.Conclusion The mutation c.591 + 1G > A at position 1 in intron 1 of the KRT1 gene may contribute to the clinical phenotype of the twins with BCIE.
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