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青岛地区复合型ABO糖基转移酶基因的分析研究

ISSN号：1004-549X
期刊名称：《中国输血杂志》
时间：0
分类：R457.11[医药卫生—治疗学;医药卫生—临床医学] Q555[生物学—生物化学]
作者机构：青岛市中心血站输血医学研究所,山东青岛266071
相关基金：青岛市市南区科技发展资金项目（2013-13-013-YY）; “青岛市医疗卫生优秀人才培养项目资助”

关键词：复合型ABO糖基转移酶, CisAB, B(A), 测序, TABO glycosyltransferase with dual specificity, cisAB, B（A）, sequencing

中文摘要：

目的对疑似含有复合型ABO糖基转移酶基因的标本进行血清学、基因分型及序列测定,阐述青岛地区复合型ABO糖基转移酶基因的分子机制和分布。方法经过常规血清学检测发现正反定型不符且怀疑为复合型ABO糖基转移酶基因的标本30例;采用PCR-SSP方法进行ABO基因进行初步分型,并对ABO基因的第6,第7外显子及其侧翼序列进行直接测序;采用单克隆测序方法检测第6,第7外显子及第6内含子的单体型;软件分析比对测序结果。结果血清学结果显示所有标本正定型为AB型,反定含有抗-A或抗-B抗体;PCR-SSP结果显示标本基因型为O01/B或A/B型;直接测序和单体型测序结果显示标本为复合型ABO糖基转移酶（Cis AB型或B（A）型）。30例标本中发现了10例Cis AB型：Cis AB01var（1例）,Cis AB01（9例）;20例B（A）型：B（A）04（18例）,B（A）02（2例）。结论 B（A）04,Cis AB01和B（A）02单体型在青岛地区Cis AB和B（A）亚型中最为常见。

英文摘要：

Objective To investigate the molecular genetic basis,molecular mechanism and distribution of Cis AB and B（ A） subgroup in ABO blood group system in Qingdao population,China. Methods Serological techniques were performed to characterize erythrocyte phenotype of 30 discrepant samples that were collected from Qingdao population. Most samples were identified as Aweak B or ABweak phenotype by serological technology. PCR-sequence specific primer（ PCRSSP） method was used for genotyping these samples. The mutations in complete exons 6 and 7,including flanked intron in the ABO genes,were screened by PCR and direct sequencing. The haplotypes of exon 6 and 7 and intron 6 were also analyzed by cloning sequencing. Gentle software was used to analyze the sequences of these samples. Results Serologically,all these samples demonstrated inconsistency when using forward and reverse group methods. The forward group test showed that the samples were AB,while the reverse group test showed that the samples had the anti-B or anti-A. Some of these samples were genotyped as O01 / B by the PCR- SSP assay,while other samples were genotyped as A / B by PCR-SSP assay. All these samples were identified as Cis AB or B（ A） variants including genotypes by direct sequencing and haplotype sequencing. Ten heterozygous alleles were observed as Cis AB： Cis AB01var（ 1 samples） and Cis AB01（ 9 samples）. Twenty heterozygous alleles were observed as B（ A）： B（ A） 04（ 18 samples） and B（ A） 02（ 2 samples）. Conclusion Haplotypes B（ A） 04,Cis AB01 and B（ A） 02 are the most popular Cis AB and B（ A） alleles in Qingdao,China.