The serological and genetic identification of a CisAB blood sample.
- VernacularTitle:一例CisAB血型样本的血清学和遗传学鉴定
- Author:
Yan-chun LIU
1
;
Ling MA
;
Dong-min ZHANG
;
Ling ZHENG
;
Yi LIU
;
Min-hui WU
;
Min XUE
;
Wen-biao LIANG
Author Information
- Publication Type:Case Reports
- MeSH: ABO Blood-Group System; genetics; metabolism; Alleles; Base Sequence; Blood Grouping and Crossmatching; Exons; Genotype; Humans; Pedigree
- From: Chinese Journal of Medical Genetics 2011;28(5):552-554
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo verify the DNA sequence of a sample serologically identified as CisAB.
METHODSForward 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.
RESULTSSerologically, 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.
CONCLUSIONThe 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).
