国际输血及血液学杂志
國際輸血及血液學雜誌
국제수혈급혈액학잡지
INTERNATIONAL JOURNAL OF BLOOD TRANSFUSION AND HEMATOLOGY
2009年
5期
403-406
,共4页
ABO放散型%序列分析%糖基转移酶活性
ABO放散型%序列分析%糖基轉移酶活性
ABO방산형%서렬분석%당기전이매활성
ABO subtype%sequence analysis%activity of the glycosyltransferases
目的 分析1例罕见B放散型的ABO血型分子背景,鉴定ABO新等位基因.方法 对1例正反定型未能鉴定其ABO血型的捐血者,分别采用ABO基因第6及第7外显子直接序列测定及单倍体克隆测序进行基因分型,以及检测ABO基因CBF/NF-Y微卫星增强子区域.结果 血清学鉴定为Bel的个体中发现了一个突变的B等位基因,该等位基因与B101等位基因相比,差异在nt905位A>G突变.该突变导致α1,3半乳糖基转移酶Asp302gly,定为Bel新基因,Genbank注册号为FJ009674.ABO基因微卫星增强区域序列测定为G/C型.结论 αl,3-D-半乳糖基转移酶基因中nt905A>G突变可能是Bel分子遗传机制之一,第302位氨基酸变异大大影响了糖基转移酶的活性.
目的 分析1例罕見B放散型的ABO血型分子揹景,鑒定ABO新等位基因.方法 對1例正反定型未能鑒定其ABO血型的捐血者,分彆採用ABO基因第6及第7外顯子直接序列測定及單倍體剋隆測序進行基因分型,以及檢測ABO基因CBF/NF-Y微衛星增彊子區域.結果 血清學鑒定為Bel的箇體中髮現瞭一箇突變的B等位基因,該等位基因與B101等位基因相比,差異在nt905位A>G突變.該突變導緻α1,3半乳糖基轉移酶Asp302gly,定為Bel新基因,Genbank註冊號為FJ009674.ABO基因微衛星增彊區域序列測定為G/C型.結論 αl,3-D-半乳糖基轉移酶基因中nt905A>G突變可能是Bel分子遺傳機製之一,第302位氨基痠變異大大影響瞭糖基轉移酶的活性.
목적 분석1례한견B방산형적ABO혈형분자배경,감정ABO신등위기인.방법 대1례정반정형미능감정기ABO혈형적연혈자,분별채용ABO기인제6급제7외현자직접서렬측정급단배체극륭측서진행기인분형,이급검측ABO기인CBF/NF-Y미위성증강자구역.결과 혈청학감정위Bel적개체중발현료일개돌변적B등위기인,해등위기인여B101등위기인상비,차이재nt905위A>G돌변.해돌변도치α1,3반유당기전이매Asp302gly,정위Bel신기인,Genbank주책호위FJ009674.ABO기인미위성증강구역서렬측정위G/C형.결론 αl,3-D-반유당기전이매기인중nt905A>G돌변가능시Bel분자유전궤제지일,제302위안기산변이대대영향료당기전이매적활성.
Objective To analyze the ABO genetic background in a rare B elution subtype and identify a novel ABO allele. Methods One sample with discrepancy of serological tests was directly sequenced for Exon 6 and Exon 7 at ABO locus and its haploid types. The genomie DNAs were further detected for the CBF/NF-Y ministatellite enhancer region of ABO gene. Results A novel B allele was identified in a Bel individual. The B allele was different from the common B101 allele by n905A>G missense mutation, which resulted in an amion acid change from Asp to Gly at 302 locus. The allele was defined as Bel new allele and registered as number FJ009674 on Genbank. The sample had four 43-bp minisatellite repeats within the CBF/NF-Y enhancer region with G/C type. Conclusion905A > G mutation in the al, 3 galactosyltransferase may be one of genetic bases of Bel phenotype. The change of amino acid at 302 locus may greatly affect the activity of galactosyltransferase.
