中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2014年
1期
82-84
,共3页
ABO基因%α-1,3半乳糖基转移酶基因%突变
ABO基因%α-1,3半乳糖基轉移酶基因%突變
ABO기인%α-1,3반유당기전이매기인%돌변
ABO gene%a-1,3 galactosyltransferase gene%Mutation
目的 探索ABO基因的α-1,3半乳糖基转移酶基因905A＞G突变对B抗原表达的影响.方法 通过标准血型血清学方法鉴定3例B亚型,应用聚合酶链反应-序列特异性引物检测、ABO基因第6、7外显子PCR产物直接测序及克隆测序等方法进行ABO亚型基因分型和序列分析.结果 3例B亚型测序结果与B101序列比对第7外显子存在905A＞G突变,导致多肽链D302G替换.结论 α-1,3半乳糖基转移酶基因nt905A＞G突变导致B抗原表达减弱.
目的 探索ABO基因的α-1,3半乳糖基轉移酶基因905A＞G突變對B抗原錶達的影響.方法 通過標準血型血清學方法鑒定3例B亞型,應用聚閤酶鏈反應-序列特異性引物檢測、ABO基因第6、7外顯子PCR產物直接測序及剋隆測序等方法進行ABO亞型基因分型和序列分析.結果 3例B亞型測序結果與B101序列比對第7外顯子存在905A＞G突變,導緻多肽鏈D302G替換.結論 α-1,3半乳糖基轉移酶基因nt905A＞G突變導緻B抗原錶達減弱.
목적 탐색ABO기인적α-1,3반유당기전이매기인905A＞G돌변대B항원표체적영향.방법 통과표준혈형혈청학방법감정3례B아형,응용취합매련반응-서렬특이성인물검측、ABO기인제6、7외현자PCR산물직접측서급극륭측서등방법진행ABO아형기인분형화서렬분석.결과 3례B아형측서결과여B101서렬비대제7외현자존재905A＞G돌변,도치다태련D302G체환.결론 α-1,3반유당기전이매기인nt905A＞G돌변도치B항원표체감약.
Objective To study the effect of 905A＞G mutation of α-1,3 galactosyltransferase of ABO gene on B antigen expression.Methods Three samples were diagnosed as B subgroup by serological test.Genotyping and sequencing were performed with polymerase chain reaction-sequence specific primer (PCR-SSP),direct sequencing and gene dones of exons 6 and 7 of the ABO locus.Results The sequence of B allele has differed from that of regular B101 allele with a 905A＞ G missense mutation in exon 7,which resulted in an amino acid substitution (D302G) in all of the three B subgroup samples.Conclusion 905A＞G mutation can reduce the expression of B antigen.
