A Novel c.796 A>C Mutation in the ABOB.01 Allele Responsible for CisAB Phenotype
A Novel c.796 A>C Mutation in the ABOB.01 Allele Responsible for CisAB Phenotype
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导致 CisAB 表型的 ABOB.01 等位基因中的新 c.796 A>C 突变
DOI：
10.1159/000501107
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发表时间：
2019
期刊：
影响因子：
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通讯作者：
Deqing Wang
中科院分区：
文献类型：
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作者：
Xiaofei Li;Huiwen Bi;Liping Sun;Faming Zhu;Deqing Wang
背景：在中国人群中，具有CisAB表型的个体是罕见的。在本研究中，我们调查了ABO基因序列和家庭成员的新生儿怀疑有CisAB表型。方法：采用常规血清学方法检测ABO血型。采用聚合酶链反应扩增ABO基因外显子1 ~ 7的全编码区，并进行测序。ABO单倍型测定采用等位基因特异性引物测序法。结果如下：根据血清学检测和家系调查结果，先证者及其父亲、祖父均为CisAB表型。在先证者及其父亲和祖父中发现了一个新的CisAB等位基因，与ABO*B.01等位基因相比，该等位基因在796位从A到C只有一个核苷酸差异（c.796A>C）。结论：在中国人群中首次发现一个新的CisAB（ABO*B.01中c.796A>C突变）等位基因。
Background: Individuals with the CisAB phenotype are rare in the Chinese population. In the present study, we investigated the sequence of the ABO gene and family members of a newborn suspected to have the CisAB phenotype. Methods: The ABO phenotype was detected using conventional serological tests. The full coding region of exons 1 to 7 of the ABO gene was amplified by polymerase chain reaction and was sequenced. The ABO haplotype was determined by the allele-specific primer sequencing method. Results: The proband and his father and grandfather were assigned the CisAB phenotype according to the results of the serological tests and family investigation. A novel CisAB allele was identified in the proband and his father and grandfather, which has only one nucleotide difference at position 796 from A to C (c.796A>C) compared with the ABO*B.01 allele. Conclusion: A novel CisAB (c.796A>C mutation in ABO*B.01) allele is the first identified in the Chinese population.