遗传性血管性水肿一家系SERPING1基因c.1396C>G的突变分析  

Mutation analysis of the SERPING1 gene c.1396C>G in a family with hereditary angioedema

作　　者：罗志鹏 李常兴[1] 曾抗[1] LUO Zhipeng;LI Changxing;ZENG Kang(Nanfang Hospital,Southern Medical University,Guangzhou 510515,China)

机构地区：[1]南方医科大学南方医院,广东广州510515

出　　处：《皮肤性病诊疗学杂志》2024年第11期747-751,共5页Journal of Diagnosis and Therapy on Dermato-venereology

基　　金：国家自然科学基金(82173437)。

摘　　要：目的报告1个遗传性血管性水肿(HAE)的家系,并对该家系进行基因突变分析。方法收集1个HAE家系资料,提取该家系成员的外周血DNA,通过Sanger测序技术对先证者及家系成员的丝氨酸蛋白酶抑制剂G1(SERPING1)基因外显子编码区进行直接测序。结果该家系连续3代共16人,有9人患病,均表现为全身皮肤反复红斑、水肿,伴瘙痒,其中3人因急性发作未能及时救治死亡。其余13人全部进行基因测序,其中6例HAE患者均检测到SERPING1基因的1个杂合变异c.1396C>G(p.Arg466Gly),7例健康者未发现该突变。结论SERPING1基因的杂合变异c.1396C>G可能为导致该家系患者出现遗传性血管性水肿的原因。Objective To report a family with hereditary angioedema(HAE)and to conduct their genetic mutation analysis.Methods Clinical data of the HAE family were collected,and DNA was extracted from the peripheral blood of the family members.The exon coding region of serine protease inhibitor G1(SERPING1)gene of the proband and family members was directly sequenced by Sanger sequencing technology.Results The family had a total of 16 people for three consecutive generations,with 9 patients suffering from HAE.All the 9 patients showed repeated erythema,edema and pruritus of the whole-body skin,among which 3 patients died of acute attack.Genetic sequencing was conducted in all 13 individuals.A heterozygous mutation in SERPING1 gene c.1396C>G(p.Arg466Gly)was detected in all the 6 HAE patients,while no gene mutation was found in the 7 healthy person.Conclusion The heterozygous mutation of c.1396C>G in the SERPING1 gene might be the cause of hereditary angioedema in this family.

关 键 词：遗传性血管性水肿 丝氨酸蛋白酶抑制剂G1 基因突变 杂合变异 

分 类 号：R596.1[医药卫生—内科学]