CisAB04型血清学鉴定和基因型分析——附1例报告

Serological identification and genotypic analysis of a rare CisAB04 type

目的对一家系(母亲、父亲、女儿)3例ABO血型不符合遗传规律血液标本进行血清学及基因检测研究,探究其原因,为临床类似案例分析提供参考依据。方法采用血清学试验检测ABO血型,研究其血清型表现特点。采用DNA直接测序法对ABO基因的第6、7外显子测定序列,探究其不符合遗传规律的原因。结果血清学试验结果显示:母亲血型为O型,有高凝集强度H抗原;父亲血型为AB型;女儿正定型为AB型。测序结果显示:母亲符合等位基因O02/O02;父亲为存在467C>T纯合突变和796C>A杂合突变,符合等位基因CisAB04/A102;女儿存在467C>T杂合突变和796C>A杂合突变,符合等位基因CisAB04/O02。父亲和女儿携带罕见CisAB04基因,符合等位基因遗传规律。结论 CisAB基因与另一不同等位基因(A或B或O基因)杂合,在血清学表现上存在差异。家系调查对于CisAB血型的发现有重要意义。

Objective To study the serology and gene sequence of 3 blood samples from a family ( mother,father and daughter) whose ABO blood group is not in accordance with general genetic patterns. Identify the causes of the disease and provide reference for clinical analysis of similar cases. Methods The ABO blood type was detected by serological tests. The exon 6 and 7 in ABO gene were sequenced by DNA direct sequencing to identify potential genetic causes for this abnormal case. Results The serological tests: The mother was type O,with high agglutination intensity H antigen;the father was type AB;the forward grouping of the daughter was type AB. The results of sequencing confirmed the mother with an allele O02 / O02;The father had a 467C>T homozygous mutation and 796C> A heterozygosity,which was consistent with the allele CisAB04 / A102;The daughter had 467C > T heterozygous mutation and 796C>A heterozygous mutation,which was consistent with the allele CisAB04 /O02. Father and daughter carry rare CisAB04 gene,which accords with the genetic rule of allele. Conclusion The heterozygosity of CisAB gene is different from that of other alleles ( A,B or O) in serological manifestations. Family investigation is of great significance for the identification of CisAB blood group.