中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2008年
6期
663-666
,共4页
曾健强%邓志辉%杨宝成%姜相越%苏宇清%卢亮%喻琼
曾健彊%鄧誌輝%楊寶成%薑相越%囌宇清%盧亮%喻瓊
증건강%산지휘%양보성%강상월%소우청%로량%유경
Lutheran基因%Auberger抗原%中国人群%序列测定
Lutheran基因%Auberger抗原%中國人群%序列測定
Lutheran기인%Auberger항원%중국인군%서렬측정
Lutheran gene%Auberger antigen%Chinese population%direct sequencing
目的 对中国人群Latheran血型系统中Auberger抗原的摹因多态性分布进行研究,建立起稳定、准确的Auberger抗原分子生物学的检测方法.方法 随机采集162名非血缘关系无偿志愿捐血者外周血样,直接进行Auberger血型抗原基因的第12外显子测序分析.对新位点突变应用聚合酶链反应-限制性片段长度多态性法电泳分析.结果 在162人份标本中Aua+b-(nt 1615A)119人,Aua+b(nt 1615A/G)40人,Aua-b+(nt 1615c)3人,Aua和Aub的基因频率分别为0.8580和0.1420.在1例基因为Aua纯合型个体中,出现nt1595G＞T突变,PCR产物经Hha Ⅰ限制性内切酶内切后,突变型和野生型的个体分别被分为不同片段,可证实该突变存在.结论 建立起Auberger抗原分子生物学的检测方法,得到中国人群Auberger抗原基因的多态性分布,发现一个新的Lutheran等位基因(GenBank注册号:EU2N1043).
目的 對中國人群Latheran血型繫統中Auberger抗原的摹因多態性分佈進行研究,建立起穩定、準確的Auberger抗原分子生物學的檢測方法.方法 隨機採集162名非血緣關繫無償誌願捐血者外週血樣,直接進行Auberger血型抗原基因的第12外顯子測序分析.對新位點突變應用聚閤酶鏈反應-限製性片段長度多態性法電泳分析.結果 在162人份標本中Aua+b-(nt 1615A)119人,Aua+b(nt 1615A/G)40人,Aua-b+(nt 1615c)3人,Aua和Aub的基因頻率分彆為0.8580和0.1420.在1例基因為Aua純閤型箇體中,齣現nt1595G＞T突變,PCR產物經Hha Ⅰ限製性內切酶內切後,突變型和野生型的箇體分彆被分為不同片段,可證實該突變存在.結論 建立起Auberger抗原分子生物學的檢測方法,得到中國人群Auberger抗原基因的多態性分佈,髮現一箇新的Lutheran等位基因(GenBank註冊號:EU2N1043).
목적 대중국인군Latheran혈형계통중Auberger항원적모인다태성분포진행연구,건립기은정、준학적Auberger항원분자생물학적검측방법.방법 수궤채집162명비혈연관계무상지원연혈자외주혈양,직접진행Auberger혈형항원기인적제12외현자측서분석.대신위점돌변응용취합매련반응-한제성편단장도다태성법전영분석.결과 재162인빈표본중Aua+b-(nt 1615A)119인,Aua+b(nt 1615A/G)40인,Aua-b+(nt 1615c)3인,Aua화Aub적기인빈솔분별위0.8580화0.1420.재1례기인위Aua순합형개체중,출현nt1595G＞T돌변,PCR산물경Hha Ⅰ한제성내절매내절후,돌변형화야생형적개체분별피분위불동편단,가증실해돌변존재.결론 건립기Auberger항원분자생물학적검측방법,득도중국인군Auberger항원기인적다태성분포,발현일개신적Lutheran등위기인(GenBank주책호:EU2N1043).
Objective To study the gene polymorphism of the Auberger antigens in lutheran blood group system in Chinese population and establish a stable,accurate molecular method detecting Auberger antigens.Methods Peripheral blood samples from 162 randomly collected and unrelated volunteer blood donors were directly sequenced for the exon 12 at the gene locus of Auberger antigens.PCR products with novel nuclcotide were further investigated by restriction fragment length polymorphism (RFLP) analysis.Results Auberger genotypes in the 162 Chinese individuals were obtained:Aua+b-(ntl615A) was found in 119 individuals,Aua+b+ (nt1615A/G) in 40 individuals and Aua-b+(nt1615G) in 3 individuals.The allele frequencies of the Aua and Aub were 0.8580 and 0.1420,respectively.An individual with homozygous Aua genotype had a nucleotide mutation (1595 G＞T).The mutation was confirmed by digesting the DNA with Hha I.Conclusion The distribution of gene polymorphism of Auberger antigens in a Chinese population was investigated and obtained.And a molecular method determining the Auberger antigen was established.A novel Lutheran allele was deposited in GenBank (accession number EU260043).
