摘要
目的检测湖南地区汉族人群肝豆状核变性患者(WD)ATP7B基因常见突变种类和形式。方法提取22例WD患者外周血基因组DNA,聚合酶链反应(PCR)扩增ATP7B基因第5、8、12及13号外显子并进行DNA直接测序检测,应用在线BLAST软件分析。结果22例患者中共发现15例患者存在基因突变。其中10例患者存在8号外显子2273G→T杂合突变(即Arg778Leu),且均伴有2250C→G多态(即Leu770Leu,均为杂合子),未发现纯合突变。12号外显子中共发现2855G→A多态(即Arg952Lys)7例(杂合突变4例,纯合突变3例),其中1例合并12号外显子2828G→A杂合突变(即Gly943Asp),另3例合并Arg778Leu杂合突变。13号外显子2975C→T杂合突变(即Pro992Leu)1例。5号外显子未发现突变。结论Arg778Leu是湖南地区汉族WD患者的突变热点,5号外显子为非突变热点。
Objective To detect hot point mutations of ATP7B gene in Hunan Han patients with Wilson＇s disease （WD）. Methods The genomic DNA of 22 WD patients was extracted and exons 5, 8, 12, 13 were amplified by PCR. Screening for the mutations was done by direct sequencing and analysed by BLAST. Results Fifteen of the 22 patients were found with mutations. Ten heterozygous Arg778Leu （2273G → T） mutations were found in exon 8, all of them were accompanied with 2250C → G polymorphism （Leu770Leu）. Seven patients were found with 2855G →A （Arg952Lys） polymorphism （4 heterozygous and 3 homozygous）, 3 of them had Arg778Leu mutation in exon 8 and one with heterozygous mutation Gly943Asp （2828G → A） in exon 12 simultaneously. Only one patient was found with heterozygous Pro992Leu （2975C →T） mutation in exon 13. No mutations were found in exon 5. Conclusion Arg778Leu is the hot point mutation of ATPTB gene in Hunan Han patients with Wilson＇s disease while exon 5 is not.
出处
《中华肝脏病杂志》
CAS
CSCD
北大核心
2006年第12期920-923,共4页
Chinese Journal of Hepatology
基金
湖南省卫生厅科研课题(B2005042)
高等学校博士学科专项科研资金(20050533025)
