ABO血型基因转录调控机制中微卫星序列的研究  

Study on Minisatellite Sequence Involved in Transcription of the Blood Group ABO Gene

作　　者：章昊[1] 喻琼[1] 苏宇清[1] 邓志辉[1] 李茜[1] 梁延连[1] 

机构地区：[1]深圳市血液中心,广东深圳518035

出　　处：《现代检验医学杂志》2008年第3期9-11,共3页Journal of Modern Laboratory Medicine

基　　金：广东省医学科研基金(A2007589)资助课题

摘　　要：目的研究与ABO血型基因转录机制中CBF/NF-Y调控因子黏附的ABO基因5’端微卫星序列。方法收集且筛选出已经ABO表达编码序列测定的ABO基因型血液DNA标本共计21例,其中包括A101/A101基因型的标本2个,A102/A102基因型的标本5个,B101/B101基因型的标本5个,O01/O01型3例,O02/O02型6例,设计引物,PCR扩增ABO基因5’端-nt3949至-nt3612位,产物经胶回收后,使用同样的引物进行直接序列测定。结果A101和A102等位基因在CBF/NF-Y黏附区域的微卫星序列只有一个43碱基长度的重复,B101,O01,O02等位基因在此区域是四个43个碱基长度的重复;且A101等位基因的这个43碱基的第nt41位为A,而B101等位基因的4个重复序列中nt41均为G,O01和O02的第1个重复中nt41为C,另外3个重复序列的nt41为G。结论转录调控因子黏附的ABO血型基因的微卫星增强子序列根据ABO基因的不同呈现变异,所有常见的ABO等位基因在此区域呈现多态性。Objective To study the minisatellite sequence binding of factor CBF/NF-Y involved in the transcription of the blood group ABO gene. Methods 21 Blood DNA samples ,after genotyped by directly sequencing as 2 A101/AI01 types,5 A102/A102 types ,5 B101/B101 types,3 001/001 types and 6 002/002 types ,were subjected to nucleotide sequence of the 5＇regulatory region containing the CBF/NF-Y enhancer from-nt3948 to-nt3612. The purified PCR produces led to direct sequence. Results The A101 and A102 allele had one 43-bp repeats whilst the B101 ,001 and 002 alleles had four 43-bp repeat. A nucleotide substitution （G〉A） at nt41 of the only one repeat was showed in A101 and A102 allele. The nucleotide at nt41 of the every repeat in B101 was G. And O01 and 002 alleles had a nucleotide C at nt41 of the first repeat while the nucleotide of other three repeat was G. Conclusion Allele-specific variations in ministallete enhancer region of ABO blood group gene are elucidated. All common allele in this region has polymorphic.

关 键 词：ABO血型 等位基因 微卫星 转录 

分 类 号：R457.11[医药卫生—治疗学] Q756[医药卫生—临床医学]