检验医学
檢驗醫學
검험의학
LABORATORY MEDICINE
2013年
12期
1128-1131
,共4页
B抗原减弱%B2亚型%ABO血型%ABO亚型%直接测序
B抗原減弱%B2亞型%ABO血型%ABO亞型%直接測序
B항원감약%B2아형%ABO혈형%ABO아형%직접측서
Weak B%B2 subgroup%ABO blood group%ABO subgroup%Direct DNA sequencing
目的:对血清学表现为B抗原减弱的血液样本进行筛查和ABO基因分析,了解其分布特征和分子遗传学基础。方法筛查并收集B抗原减弱(与抗-B血清试管法凝集强度中等)的样本,采用血型血清学方法进行鉴定分析,采用直接测序的方法对ABO基因的第6、7外显子及第6内含子进行序列分析,对可追踪家庭进行家系分析。结果从241952份样本中检出13例B抗原减弱表型,其中B型9例、AB型4例;所有样本的红细胞与抗-H反应均增强;其中2例可检出不规则抗-B;ABO基因型分别为A102/Bw12(1例)、B101/B101(2例)、B101/O02(3例)、A102/B101(3例)、B101/O01(4例)。在1例基因型为B101/O01个体的家系成员(父亲)中检出相同表型。结论该类表型在B型人群中的频率约为1∶7000;除1例样本的B等位基因存在278C>T突变(Bw12)外,其余样本在第6、7外显子和第6内含子中均未检出突变;ABO基因酶催化活性区域编码序列以外的基因变异,可能是导致B抗原减弱的原因之一。
目的:對血清學錶現為B抗原減弱的血液樣本進行篩查和ABO基因分析,瞭解其分佈特徵和分子遺傳學基礎。方法篩查併收集B抗原減弱(與抗-B血清試管法凝集彊度中等)的樣本,採用血型血清學方法進行鑒定分析,採用直接測序的方法對ABO基因的第6、7外顯子及第6內含子進行序列分析,對可追蹤傢庭進行傢繫分析。結果從241952份樣本中檢齣13例B抗原減弱錶型,其中B型9例、AB型4例;所有樣本的紅細胞與抗-H反應均增彊;其中2例可檢齣不規則抗-B;ABO基因型分彆為A102/Bw12(1例)、B101/B101(2例)、B101/O02(3例)、A102/B101(3例)、B101/O01(4例)。在1例基因型為B101/O01箇體的傢繫成員(父親)中檢齣相同錶型。結論該類錶型在B型人群中的頻率約為1∶7000;除1例樣本的B等位基因存在278C>T突變(Bw12)外,其餘樣本在第6、7外顯子和第6內含子中均未檢齣突變;ABO基因酶催化活性區域編碼序列以外的基因變異,可能是導緻B抗原減弱的原因之一。
목적:대혈청학표현위B항원감약적혈액양본진행사사화ABO기인분석,료해기분포특정화분자유전학기출。방법사사병수집B항원감약(여항-B혈청시관법응집강도중등)적양본,채용혈형혈청학방법진행감정분석,채용직접측서적방법대ABO기인적제6、7외현자급제6내함자진행서렬분석,대가추종가정진행가계분석。결과종241952빈양본중검출13례B항원감약표형,기중B형9례、AB형4례;소유양본적홍세포여항-H반응균증강;기중2례가검출불규칙항-B;ABO기인형분별위A102/Bw12(1례)、B101/B101(2례)、B101/O02(3례)、A102/B101(3례)、B101/O01(4례)。재1례기인형위B101/O01개체적가계성원(부친)중검출상동표형。결론해류표형재B형인군중적빈솔약위1∶7000;제1례양본적B등위기인존재278C>T돌변(Bw12)외,기여양본재제6、7외현자화제6내함자중균미검출돌변;ABO기인매최화활성구역편마서렬이외적기인변이,가능시도치B항원감약적원인지일。
Objective To study the frequency of weak B phenotype and analyze the molecular genetics on ABO gene,and to analyze the serological and genetic characteristics.Methods The samples with B phenotypes (moderately agglutinate by anti-B)were identified,screened and collected by the serological techniques in routine ABO blood group. The sequences of exon 6,exon 7and intron 6 of ABO gene were analyzed by direct DNA sequencing.Pedigree study was performed in traceable family.Results A total of 13 weak B phenotypes were observed in 241 952 cases (9 cases of blood group B and 4 cases of blood group AB).Enhanced agglutination with anti-H was observed in all the sample′s red cell.The ABO genotypes of A102/Bw12,B101/B101,B101/O02,A102/B101,B101/O01 were detected in 1,2,3,3 and 4 of the 13 cases.A same weak B phenotype was detected in a B101/O01 family (father)study.Conclusions The frequency of weak B phenotype in Fujian population with B blood group is about 1∶7 000.A B allele with a nucleotide 278C>T mutation (Bw12 )is detected,and no mutation is detected among the others for exon 6,exon 7 and intron 6. Variations outside the sequence of glycosyltransferase catalytic domain may be the factors for weak B phenotype.