[一份顺式AB血型样本的血清学和基因鉴定]
[The serological and genetic identification of a CisAB blood sample].
作者信息
Liu Yan-chun, Ma Ling, Zhang Dong-min, Zheng Ling, Liu Yi, Wu Min-hui, Xue Min, Liang Wen-biao
机构信息
Jiangsu Province Blood Center, Nanjing, Jiangsu, People's Republic of China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Oct;28(5):552-4. doi: 10.3760/cma.j.issn.1003-9406.2011.05.018.
OBJECTIVE
To verify the DNA sequence of a sample serologically identified as CisAB.
METHODS
Forward and reverse group methods were used to determine the blood serological type of that the sample, and PCR-sequence specific primer (PCR-SSP) method was used for genotyping the sample.
RESULTS
Serologically, the forward group test showed that the sample was AB, while the reverse group test showed that the sample had the anti-B and anti-H + + +. The auto antibodies were negative. PCR-SSP assay showed the sample was CisAB01. ABO genetic locus sequencing showed c.261delG in exon 6, c.297 was homozygous AA. Mutations c.467C to T and c.803G to C were found in exon 7. A novel heterozygous mutation, c.724G to T, was detected.
CONCLUSION
The serological phenotype of the specimen was CisAB. The genotype was ABO *CisAB01 and ABO *O01. A novel mutation c.724G to T in exon 7 was identified (GenBank accession no. JF304777).
目的
验证血清学鉴定为CisAB的样本的DNA序列。
方法
采用正反定型法确定样本的血型血清学类型，采用聚合酶链反应-序列特异性引物（PCR-SSP）法对样本进行基因分型。
结果
血清学检测中，正向定型试验显示样本为AB型，而反向定型试验显示样本有抗B及抗H +++。自身抗体阴性。PCR-SSP检测显示样本为CisAB01型。ABO基因座测序显示第6外显子存在c.261delG，第297位为纯合子AA。在第7外显子发现c.467C突变为T以及c.803G突变为C。检测到一个新的杂合突变，c.724G突变为T。
结论
该样本的血清学表型为CisAB。基因型为ABOCisAB01和ABOO01。在第7外显子鉴定出一个新的突变c.724G突变为T（GenBank登录号：JF304777）。
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