导致顺式AB血型表型的*等位基因中的一种新型c.796 A>C突变。
A Novel c.796 A>C Mutation in the * Allele Responsible for CisAB Phenotype.
作者信息
Li Xiaofei, Bi Huiwen, Sun Liping, Zhu Faming, Wang Deqing
机构信息
Department of Blood Transfusion, Chinese PLA General Hospital, Beijing, China.
Department of Blood Transfusion, Beijing Friendship Hospital, Capital Medical University, Beijing, China.
出版信息
Transfus Med Hemother. 2020 Jul;47(4):288-290. doi: 10.1159/000501107. Epub 2019 Oct 8.
BACKGROUND
Individuals with the CisAB phenotype are rare in the Chinese population. In the present study, we investigated the sequence of the 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 gene was amplified by polymerase chain reaction and was sequenced. The 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 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 * allele.
CONCLUSION
A novel (c.796A>C mutation in *) allele is the first identified in the Chinese population.
背景
具有顺式AB（CisAB）血型表型的个体在中国人群中较为罕见。在本研究中，我们对一名疑似具有CisAB血型表型的新生儿及其家庭成员的基因序列进行了调查。
方法
采用传统血清学检测方法检测ABO血型表型。通过聚合酶链反应扩增基因外显子1至7的完整编码区并进行测序。采用等位基因特异性引物测序法确定单倍型。
结果
根据血清学检测和家系调查结果，先证者及其父亲和祖父被判定为CisAB血型表型。在先证者及其父亲和祖父中鉴定出一个新的等位基因，与*等位基因相比，该等位基因在第796位仅有一个核苷酸差异，即从A变为C（c.796A>C）。
结论
一个新的（*基因中c.796A>C突变）等位基因是在中国人群中首次鉴定出的。
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