Hallopeau—Siemens型常染色体隐性遗传大疱性表皮松解症一家系的基因突变研究  

Mutations in COL7A1 gene in a family with Hallopeau-Siemens type of recessive dystrophic epidermolysis bullosa

作　　者：郑艳红[1] 赵俊郁[1] 黄永初[1] 卜定方[1] 姜薇[2] 朱学骏[1] 

机构地区：[1]北京大学第一医院皮肤科、北京大学皮肤性病防治中心,100034 [2]北京大学第三医院皮肤科,100083

出　　处：《国际皮肤性病学杂志》2007年第3期131-133,共3页International Journal of Dermatology and Venereology

基　　金：北京大学985项目基金（985-2-010-24）

摘　　要：目的鉴定一Hallopeau—Siemens型常染色体隐性遗传真皮型大疱性表皮松解症家系的基因突变，为进一步开展产前诊断奠定基础。方法提取患者及其父母的基因组DNA，应用聚合酶链反应、DNA直接测序明确突变位点，并使用限制性片段长度多态性分析进一步确定该家系的致病原因。结果发现患者COL7A1基因存在2个突变：①第12号外显子上第4326位碱基由胞嘧啶突变为胸腺嘧啶，使第525位氨基酸由精氨酸（G）突变为终止密码（R525X）；②第105号外显子上第27716位碱基由胞嘧啶突变为胸腺嘧啶，使第2510位氨基酸由精氨酸（G）突变为终止密码（R2510X）。其母为R525X突变杂合子，其父为R2510X突变杂合子。结论COL7A1基因的R525X无义突变和R2510X无义突变是引起该患者临床症状的特异突变。Objective To detect the mutation of COL7A1 gene in a family with Hallopeau-Siemens type of recessive dystrophic epidermolysis bullosa. Methods Genomic DNA was extracted from the proband and her family members. All 118 exons of COL7A1 gene were amplified by PCR. Mutation scanning was carried out via direct DNA sequencing, and restriction fragment length polymorphism （ RFLP ） was conducted to confirm the results. Results Two mutations were detected in COL7A1 gene of the proband,included a known nonsense mutation of C4326T located at codon 525 （R525X）in exon 12 and a novel nonsense mutation of C27716T located at codon 2510 （ R2510X ）in exon 105, and both of them caused premature termination codons. A heterozygote of R525X was identified in the proband＇s mother and a heterozygote of R2510X in her father. Conclusion R2510X in COL7A1 gene are the underlying cause epidermolysis bullosa in this proband. Our results suggest that the mutations of R525X and of Hallopeau-Siemens type of recessive dystrophic

关 键 词：表皮松解 大疱性 基因 突变 

分 类 号：R758[医药卫生—皮肤病学与性病学]