A放散型血型分子遗传结构的研究  

Study on molecular genetic structure of Ael blood subgroup

作　　者：喻琼[1] 吴国光[1] 梁延连[1] 邓志辉[1] 苏宇清[1] 王大明[1] 

机构地区：[1]深圳市血液中心深圳市输血医学研究所,518035

出　　处：《中华医学遗传学杂志》2006年第2期173-176,共4页Chinese Journal of Medical Genetics

基　　金：广东省医学科研基金课题(2001641);深圳市科技局资助项目(200304217)~~

摘　　要：目的研究A放散型血型的分子生物学特性。方法对5例血清学定为Ael或AelB的个体,采用4对特异性引物进行PCR扩增后,对其ABO基因的第6、7外显子进行序列测定。且对其中1例表型为AelB样本的ABO基因转录结构进行序列分析。结果1例表型为Ael的样本含已报道的Ael01基因,1例表型为Ael的样本含Ael05基因,2例表型为AelB和1例表型为Ael的样本未测出任何A等位基因,而是含有261G缺乏的O01或O02基因。结论A放散型血型分子结构呈多样性,含261G缺失的O等位基因的样本有弱A抗原表达的机理有待说明。Objective To study the ABO allele molecular characteristics of Ael blood subgroup. Methods Five individuals of diagnosed as Ael blood subgroup were subjected to PCR amplify ABO alleles using four pairs of sequence-specific primers. Exon 6 and exon 7 at ABO locus of all samples were sequenced. An individual with AelB phenotype was chosen for further analysis of transcript structure of ABO gene. Results Sequence analysis indicated one Ael phenotype sample with reported Ael01 allele, one Ael phenotype sample with an Ael05 allele, and two AelB and one Ael individuals did not contain referred A allele, but contain O01 or 002 allele with 261G deletion. Conclusion Molecular bases for the Ael have highly polymorphism. The mechanism responsible for the express weak A antigen of O allele with 261G deletion awaits to be elucidated.

关 键 词：ABO血型 Ael亚型 DNA序列 

分 类 号：R394[医药卫生—医学遗传学]