皮肤性病诊疗学杂志2024，Vol.31Issue(11)：747-751,5.DOI:10.3969/j.issn.1674-8468.2024.11.004
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
摘要
Abstract
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 se-quenced 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 at-tack.Genetic sequencing was conducted in all 13 individuals.A heterozygous mutation in SERP-ING1 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Key words
hereditary angioedema/SERPING1/gene mutation/heterozygous mutation引用本文复制引用
罗志鹏,李常兴,曾抗..遗传性血管性水肿一家系SERPING1基因c.1396C＞G的突变分析[J].皮肤性病诊疗学杂志,2024,31(11):747-751,5.基金项目
国家自然科学基金(82173437) （82173437）
