7个肾上腺脑白质营养不良家系的基因突变分析  

作　　者：黄梁浒[1] 王志红[1] 杨渤生[1] 郑德柱[1] 吴玉水[1] 兰风华[1] 

机构地区：[1]福州总医院全军检验医学研究所

出　　处：《福州总医院学报》2008年第1期10-12,共3页Journal of Fuzhou General Hospital

摘　　要：目的:对7个肾上腺脑白质营养不良家系进行基因突变分析。方法:应用RT-PCR技术,对7个患者的ABCD1基因编码区,分4个片段进行扩增并对PCR产物直接测序。应用PCR-限制性酶切或DNA测序等方法分析相应的基因组DNA,进一步确证ABCD1的突变位点。结果:在7名肾上腺脑白质营养不良患者的ABCD1基因上,存在6个不同的碱基置换(709C>A,807G>A、1161C>T、2065C>T、2113T>C和2235C>T)、1个碱基缺失(1801delAG)和1个碱基插入(1126insGCCATCG),分别造成5个错义突变(A141T、R259W、P560L、L576P和R617C)、2个移码突变(fs I246和fs FA71)和1个无义突变(S108X)。结论:在中国人肾上腺脑白质营养不良患者中发现4个新的ABCD1基因突变。即S108X、fs I246、R259W和L576P突变。不同家系具有不同的突变位点,且突变类型和表型之间无特殊的相关性。Objective： To identify the mutational genotype in seven Chinese families with X - linked adrenoleukodystrophy （X- ALD） .Method： The coding region of ABCD1 gene of seven patients was amplified in 4 sesments by PCR after reverse transcription using RT- PCR technology.The PCR products were purified and directly sequenced.To confirm the mutations, the genomic DNA was analyzed by FCR- restrictive digesticu or direct sequencing of purified FCR products. Results： Six base substitutions （709C〉A, 807G〉A, 1161C〉T, 2065C〉T, 2113T〉C and 2235C〉T）. one bese deletion （1801delAG） andonebase insertion （1126insGCCATCG） were identified in seven X- linked adrenoleukodystrophy pedigrees, which resulted in five missense mutations （A141T, R259W, P560L, L576P and R617C）, two frame shift mutations （fs I246 and fs E471） and one nonsense mutation （S108X） respectively.Conclusion： Four novel ABCDI mutations which were S108X, fs I246, R259W and L576P, were detected in Chinese X - lifted adenoleukodystrophy patients. There was different ABCD1 gone mutation in different pedigree and no obvious correlation between the type of mutation and phenotype was found.

关 键 词：肾上腺脑白质营养不良 基因突变 ABCD1基因 ABCD1蛋白 

分 类 号：R586[医药卫生—内分泌] R733.72[医药卫生—内科学]