中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
Chinese Journal of Medical Genetics
2015年
4期
558-561
,共4页
ABO基因%O04等位基因%序列分析
ABO基因%O04等位基因%序列分析
ABO기인%O04등위기인%서렬분석
ABO gene%O04 allele%Sequences analysis
目的 研究ABO基因O04等位基因表达弱A抗原的分子基础.方法 通过标准血型血清学方法鉴定1名无偿献血者ABO血型疑难样本,应用聚合酶链反应-序列特异性、逆转录-聚合酶链反应和DNA序列分析等方法对1名献血者ABO基因转录调控序列和全编码序列进行检测.结果 无偿献血者的血清学检测结果是AmB,基因测序、基因克隆和cDNA水平验证显示有B101和O04两个等位基因.结论 DNA序列分析表明ABO疑难血型样本含有B101和O04等位基因.O04等位基因表达弱A抗原特性.
目的 研究ABO基因O04等位基因錶達弱A抗原的分子基礎.方法 通過標準血型血清學方法鑒定1名無償獻血者ABO血型疑難樣本,應用聚閤酶鏈反應-序列特異性、逆轉錄-聚閤酶鏈反應和DNA序列分析等方法對1名獻血者ABO基因轉錄調控序列和全編碼序列進行檢測.結果 無償獻血者的血清學檢測結果是AmB,基因測序、基因剋隆和cDNA水平驗證顯示有B101和O04兩箇等位基因.結論 DNA序列分析錶明ABO疑難血型樣本含有B101和O04等位基因.O04等位基因錶達弱A抗原特性.
목적 연구ABO기인O04등위기인표체약A항원적분자기출.방법 통과표준혈형혈청학방법감정1명무상헌혈자ABO혈형의난양본,응용취합매련반응-서렬특이성、역전록-취합매련반응화DNA서렬분석등방법대1명헌혈자ABO기인전록조공서렬화전편마서렬진행검측.결과 무상헌혈자적혈청학검측결과시AmB,기인측서、기인극륭화cDNA수평험증현시유B101화O04량개등위기인.결론 DNA서렬분석표명ABO의난혈형양본함유B101화O04등위기인.O04등위기인표체약A항원특성.
Objective To study the molecular basis of O04 allele expression of weak A antigen at the ABO locus.Methods Serological assays were performed to characterize the erythrocyte phenotype of a proband.Mutations of the ABO gene were screened with polymerase chain reaction (PCR),reversetranscription PCR (RT-PCR) and DNA sequencing.Results The proband was identified as weak AB phenotype by serological assays.A B101 allele and an O04 allele were identified by gene sequencing,gene cloning and RT-PCR.Conclusion A B101 allele and an O04 allele were confirmed by the sequencing based typing in a suspicious ABO blood group.The O04 allele is characterized by expression of weak A antigen.