Detection of rare CisAB blood group in perinatal pregnant women and its blood preparation strategy
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摘要: 目的 通过免疫血清学及分子生物学方法鉴定1例孕妇罕见CisAB血型，并对其家系进行ABO血型调查，探讨疑难血型鉴定方法及罕见血型孕妇供血策略。方法 采用免疫血清学方法及家系调查初步鉴定先证者家系ABO表型，运用聚合酶链式反应序列特异性引物(PCR-SSP)法进行ABO血型基因分型，并采用Sanger测序ABO基因1~7外显子进行验证。结果 血型血清学检测发现6例家系成员中，正反定型不相符3例，先证者及其母亲、胞弟血清学试验表现为AB亚型，父亲为A型，丈夫、长子表现为O型；分子生物学：先证者ABO基因型表现为BO2，其母亲为BB，父亲为AO，胞弟为AB，丈夫、长子均为OO；CisAB基因型分型结果分别为先证者Cis-AB01/O02，母亲为Cis-AB01/B，胞弟为Cis-AB01/A。结论 对经免疫血清学ABO血型定型困难、疑难样本，可通过鉴定其家系来初步推断其血型，同时可通过分子生物学验证其ABO血型，最终寻找提供最佳的供血方案。Abstract: Objective To identify a rare CisAB blood group in a pregnant woman by immunoserology and molecular biology methods, investigate ABO blood group in her family, and explore the identification method of difficult blood group and blood supply strategy for pregnant women with rare blood group.Methods The ABO phenotype of the proband's family was initially identified by immunoserological method and family investigation. The ABO blood group was genotyped by polymerase chain reaction sequence specific primers(PCR-SSP) and verified by Sanger sequencing in exons 1-7 of ABO gene.Results Among the 6 family members, 3 cases of positive and negative stereotyping did not match. The proband, his mother and brother showed AB subtype, his father was A type, and his husband and eldest son showed O type. Molecular biology: ABO genotype of the proband was BO2, his mother was BB, his father AO, his brother was AB, his husband and eldest son were OO. CisAB genotyping results were Cis-AB01/O02 for the proband, Cis-AB01/B for the mother, and Cis-AB01/A for the brother.Conclusion For the difficult ABO blood group typing samples by immunoserology, the blood group can be preliminarily inferred by identifying their families, and the ABO blood group can be verified by molecular biology and find the best way to supply blood.
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Key words:
- postpartum hemorrhage /
- ABO subtype /
- CisAB blood type /
- blood transfusion
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表 1 ABO和CisAB血型基因分型引物孔位表
ABO CisAB 孔位 血型 孔位 血型 1 O1 1 Cis-AB01 2 O2，B，A，A2 2 Cis-AB01，B(A)01 3 O2 3 B(A)01，B(A)03 4 O1，B，A，A2 4 Cis-AB02 5 B 5 B(A)02 6 A，A2，O1，O2 6 Cis-AB03 7 A2 7 B(A)04 8 A，B，O1，O2 8 B(A)06 9 O 9 Cis-AB04 10 A201 10 B1 11 非A201 11 B2 12 A 12 O1 13 O4 13 O2 14 阴性对照 
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表 2 ABO血型血清学结果
序号 样本名 A B A1 H Ac Bc Oc 自身 1 先证者 4+ 3+ 0 3+s 0 3+ 0 0 2 先证者之母 3+ 4+ 0 2+ 1+ 0 0 0 3 先证者之父 4+ 0 4+ 2+ 0 2+ 0 0 4 先证者胞弟 4+ 1+ 4+ 2+ 2+ 2+ 0 0 5 先证者丈夫 0 0 0 4+ 4+ 4+ 0 0 6 先证者长子 0 0 0 4+ 4+ 4+ 0 0
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表 3 等位基因变化表
等位基因 碱基替换 预测氨基酸变化 表现型 ABO*CisAB.01 c.467C>T；c.803G>C p.Pro156Leu；p.Gly268Ala CisAB ABO*O.01.02 c.106G>T；
c.188G>A；c.189C>T；c.220C>T；
c.261delG；c.297A>G；c.646T>A；
c.681G>A；c.771C>T；c.829G>Ap.Val36Phe；
p.Arg63His；
p.Pro74Ser；
p.Thr88Profs*31O
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