Analysis of linkage genetic polymorphism of A and B blood type genes in eight families
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摘要: 目的:通过调查8例ABO血型血清学正反定型不符,血清学鉴定结果与PCR-SSP基因分型结果不一致的家系成员,研究A、B亚型的血清学特征及A、B基因在家系中的遗传特点,深入了解ABO疑难血型的鉴定方法。方法:应用常规血型血清学检测为初步鉴定,对A或B抗原减弱的样本进行吸收放散试验与型物质试验来确证血型的型别,同时采用PCR-SSP方法进行ABO基因分型,对于血清学鉴定与PCR-SSP基因分型结果不一致的特殊标本通过ABO基因第6外显子(exon-6)、第7外显子(exon-7)的直接测序的方法解析ABO基因核苷酸序列特征。结果:血型血清学检测发现,8例家系中先证者成员都以ABO定型正反定型不符、PCR-SSP基因分型与血清学结果不相符、血浆中出现意外抗-A或抗-B抗体为主要特征,个别家系的型物质检测结果出现半分泌型特质的现象。ABO基因exon-6、exon-7测序发现8个家系成员均具有同一特征:共存A、B、O 3个基因,A与B基因在同一条染色体上连锁遗传、O基在另一条染色体上以等位基因的方式遗传。其中一个家系相关成员的型物质出现半分泌现象。3例家系的A、B基因分别以CisAB*01(AAAB)、CisAB*02(BBAB)、CisAB tlse*03(BBAB)的模式遗传,其他6例家系有1例以B(A)*02、3例以B(A)*01、1例以B(A)640、1例以B(A)700的模式遗传。结论:ABO疑难血型在中国人群中以血清学鉴定困难,常规血清学与基因分型结果不相符为主要特点,以exon-6的261位,exon-7的467、526、640、700、703、796、803位核苷酸的突变决定了A与B基因连锁遗传的分子基础。Abstract: Objective: Eight family members whose ABO blood group serology was inconsistent with positive and negative stereotypes and whose serological identification results were inconsistent with PCR-SSP genotyping.The results were investigated to study the serological characteristics of subtypes A and B and the genetic characteristics of genes A and B in the family and conduct in-depth research on the identification of ABO difficult blood group.Method: The routine serological detection for blood group preliminary appraisal,weakened to A or B antigens samples absorb radiation type test and don't test to confirm the type of substances,and the PCR-SSP methods ABO genotyping,for serological identification are not consistent with the result of PCR-SSP genotyping of special specimens by ABO gene exon 6 and exon 7 of direct sequencing method resolution ABO gene nucleotide sequence feat-ures.Result: Blood group serological test results are all the proband members of the eight families were mainly characterized by ABO inconformity,PCR-SSP genotyping inconformity with serological results,and unexpected anti-A or anti-B antibodies in the plasma.While some families showed semi-secretory characteristics in the test results.The exon-6 and the exon-7 sequencing of ABO genes found that eight family members all have the same characteristics:coexistence of A,B and O genes,A and B genes are linked on the same chromosome and O group is inherited in the way of allele on another chromosome.One of the related members of the family was hemicrine.The A and B genes of the three families were inherited by CisAB*01 (AAAB), CisAB*02 (BBAB) and CisAB tlse*03 (BBAB), respectively.Among the other six families,one was inherited by B (A) *02,three by B (A) *01,one by B (A) 640 and one by B (A) 700.Conclusion: ABO difficult blood group in Chinese population is characterized by the difficulty of serological identification and the conventional serology and genotyping results were not consistent with the main characteristics.The 261 in the exon-6 and the 467,526,640,700,703,796,803 nucleotide mutations in the exon-7 were determined the molecular basis of A and B gene linkage.
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Key words:
- ABO difficult blood group /
- B（A）subtype /
- CisAB subtypes /
- chain inheritance /
- genealogical survey
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