Liu Yan-chun, Ma Ling, Zhang Dong-min, Zheng Ling, Liu Yi, Wu Min-hui, Xue Min, Liang Wen-biao
Jiangsu Province Blood Center, Nanjing, Jiangsu, People's Republic of China.
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.
To verify the DNA sequence of a sample serologically identified as CisAB.
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.
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.
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).
验证血清学鉴定为CisAB的样本的DNA序列。
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。
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。
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）。
