一个遗传性血管性水肿家系基因分析  

Identification of Gene Mutations of A Chinese Type Ⅱ Hereditary Angioedema Family

作　　者：任华丽[1] 张宏誉[2] 

机构地区：[1]首都医科大学宣武医院风湿变态科,北京100053 [2]中国医学科学院北京协和医学院北京协和医院变态反应科,北京100730

出　　处：《中华临床免疫和变态反应杂志》2007年第2期141-145,共5页Chinese Journal of Allergy & Clinical Immunology

摘　　要：目的对一个Ⅱ型遗传性血管性水肿(HAE-Ⅱ)家系进行基因分析,明确其分子生物学机制。方法根据 HAE-Ⅱ突变位点局限的特点,采用快速有效的检测策略对该 HAE-Ⅱ家系进行突变类型分析,设计突变位点特异性引物,扩增外显子8,对扩增产物进行测序,并将序列与 GenBank C1-INH 基因序列相比较,与正常人进行对照。结果 2例患病家系成员突变类型相同,核苷酸序列18 059发生 C 到 T 的突变,密码子 CGC→TGC,第444位的精氨酸由半胱氨酸替代,而正常人中无此改变。结论本例家系突变位点与国外报道相同,HAE 发病可能无种族差异。Objective To identify the mutation of C1 inhibitor （CI-INH） gene in a Chinese hereditary anglo- edema type Ⅱ （HAE- Ⅱ ） family. Methods The eighth exon of the CI-INH gene was amplified by using a mutation-specific polymerase chain reaction （PCR）, followed with gene sequencing. Sequencing results were compared with the normal sequences in GenBank to locate the mutations. Results Codon CGC was converted to TGC at position 18 059 in these two family members, resulting Arg at position 4444 replaced by Cys. Conclusions We reported here the first HAE-Ⅱ family in China. Mutation was shown as common point mutation within the reactive centre, which had been reported as the second most frequently occured mutation in HAE-Ⅱ.

关 键 词：Ⅱ型遗传性血管性水肿 家系 基因突变 

分 类 号：R596[医药卫生—内科学]