摘要
目的:研究达斡尔族IL-36Ra缺陷病(DITRA)一家系中IL36RN的突变情况。方法:2例患者分别为48岁和51岁同胞兄弟,家族中无类似疾病患者。以168例健康汉族人作为对照组,采用聚合酶链反应(PCR)扩增2例患者及其4例健康家族成员IL36RN基因的全部外显子及其侧翼序列并测序。结果:例1系婴儿期发病,发病时皮疹泛发全身,病情重;例2系50岁发病,皮疹局限于躯干,病情较轻。2例患者均发生了IL36RN c.1 15+6T>C纯合突变,4例健康家族成员该位点发生了杂合突变,168例对照组中有7例该位点发生杂合突变。结论:IL36RN c.115+6T>C纯合突变可能是2例患者发生DITRA的原因。.
Objective： To investigate the IL36RN mutations in a Daur family with DITRA. Methods： The patients were 48 and 51 years old, respectively, with no family history of DITRA. Peripheral blood samples were collected from the patients, four of their family members （mother, sisters and nephew） and 168 unrelated healthy controls. The genomie DNA from the blood samples was subjected to PCR for the amplification of 5 encoding exons and their flanking sequences of the IL36RN, followed by DNA sequencing. Results： The proband （patient 1） suffered from serious generalized rashes since infancy while his brother （patient 2） began to have rashes on the trunk at 50 years old. A homozygous splice site mutation in c.115＋6T〉C was detected in the IL36RN in both patients. Four of their family members and 7 healthy controls carried heterozygous c.115＋ 6T〉C mutations of the IL36RN. Conclusion： The homozygous mutation in c.115＋6T〉C of the IL36RN in the two patients may be the causative factor for DITRA.
出处
《临床皮肤科杂志》
CAS
CSCD
北大核心
2014年第9期531-535,共5页
Journal of Clinical Dermatology
基金
教育部博士点基金(20121106110047)资助项目
