CAJ | 학술논문

目的建立研究ABO血型系统基因转录结构的方法.方法使用两套RNA逆转录-巢式PCR-序列测定的反应策略对中国人群6种常见ABO基因型的11个血液标本转录结构进行分析.应用所建立的方法对3例ABO血型正反定型不符的标本进行ABO基因转录结构的分析.结果未能检测到O基因的转录结构;两套PCR策略均发现有2种转录结构,一种是完整的ABO基因编码区,另一种是缺失了整个第6外显子的ABO基因编码序列.一个变异的ABO等位基因在Bx表型个体被发现.结论 ABO基因转录结构的剪切方式是复杂的,不同剪切位点的ABO转录子被观察到.O等位基因的转录结构在RT-PCR分析未检测出来.O型基因转录结构这个特点的发现,可以应用于ABO基因单倍体序列测定中.
목적 건립연구ABO혈형계통기인전록결구적방법.방법 사용량투RNA역전록-소식PCR-서렬측정적반응책략대중국인군6충상견ABO기인형적11개혈액표본전록결구진행분석.응용소건립적방법대3례ABO혈형정반정형불부적표본진행ABO기인전록결구적분석.결과 미능검측도O기인적전록결구;량투PCR책략균발현유2충전록결구,일충시완정적ABO기인편마구,령일충시결실료정개제6외현자적ABO기인편마서렬.일개변이적ABO등위기인재Bx표형개체피발현.결론 ABO기인전록결구적전절방식시복잡적,불동전절위점적ABO전록자피관찰도.O등위기인적전록결구재RT-PCR분석미검측출래.O형기인전록결구저개특점적발현,가이응용우ABO기인단배체서렬측정중.
Objective A method was built to study the transcript structure of ABO blood-group system. Methods Eleven blood samples were accessed by two strategies of transcriptase PCR (RT-PCR) with nest PCR, which were collected from Chinese individuals' diagnosed as six common ABO genotypes, including O01/O02, O02/O02, A101/O01, A102/O02, B101/O02, A102/B101. Three ABO discrepancy samples were detected for ABO transcript structure and the ABO cDNA produces were directly sequenced. Results Any transcript structure of O gene couldn't be detected in all samples. Transcript structures of ABO gene were found in the two strategies, of which one was complete ABO transcript structure and the other was a transcript that skipped whole exon 6. An ABO variant allele was identified in an individual who was assigned as Bx subgroup. Conclusion Splicing patterns of the ABO transcripts is complicated. Different alternative-spliced ABO transcriptswere obtained. The complete transcript encoded from the O allele was not detected in the RT-PCR analysis. The analysis on mRNA of ABO gene can be used to detect the ABO haplotype for the character of O transcript.