摘要
报告 8例儿童肝豆状核变性 ( HLD)患者 P型 ATP7B酶基因突变情况。应用 PCR- SSCP方法检测第 14外显子 ,运用限制性内切酶酶切和 DNA直接序列分析技术检测第 8外显子。结果 8例患儿均未发现第 14外显子泳动变位 ,4例发生第 8外显子 Arg778Leu纯合子突变 ,1例存在 Arg778L eu杂合子突变。所有上述 Arg778L eu突变均伴有第 770位 C→G多态。在 8例患儿中受累染色体频率 :纯合子 ( 8/ 16) 50 % ,杂合子 ( 1/ 16) 6.2 5%。表明第 8外显子突变是儿童肝豆状核变性的突变热点。Msp 限制性内切酶酶切检测是一种简便、经济、快速的诊断方法。
Mutations in P type ATPase7B gene in 8 children with hepatolenticular degeneration disease(HLD)were reported We used PCR SSCP(polymerase chain reaction single strand conformation polymorphism)for detecting exon 14, used restricted endonuclease digestion and DNA direct sequencing to detect exon 8,and didn’t find abnormality of exon 14 in 8 patients We identified one missence mutation in 5 patients from 4 unrelated HLD families 4 of them were homozygous for Arg778Leu One is heterozygous for Arg778Leu They all accompany one polymorphism,C→G(CTC→CTG;Leu→Leu)in 770 position The mutating allele frequency is 50%(8/16)for homozygous and 6 25%(1/16)for heterozygous The results suggested that Arg778Leu in exon 8 is the hot spot mutation in children with HLD Restricted endonuclease digestion is simple,fast and economic method
出处
《山东医药》
CAS
北大核心
2000年第10期5-6,共2页
Shandong Medical Journal
关键词
肝豆状核变性
基因突变
儿童
Hepatolenticular degeneration Gene mutatio Children
