Linked Life Data

8981729

Source:http://linkedlifedata.com/resource/pubmed/id/8981729

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1997-3-25
pubmed:abstractText
DNA samples were analysed from Japanese individuals with the very rare ABO variant phenotype, cisAB (A2B3), which is characterized by the apparent inheritance of both A and B genes on one chromosome. The nature of the bases present at nucleotide positions (nps) 261, 526, 703, 796 and 803 is important for the specificity of the alleles at the ABO locus and the DNA from the cis AB donors was analysed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) to determine which nucleotides are present at these positions. The results indicated that the cisAB allele had the AAAB-structure, which was a chimera of normal A and B alleles, when the expression 'AAAA' and 'BBBB' indicated the nucleotides of normal A (C, G, C and G) and B (G, A, A and C) genes at nps 526, 703, 796 and 803, respectively. The AAAB allele was found in all 27 individuals (17 families) with the cisAB including three phenotypes A2B3, A1B3 and A2B and no other chimeric gene was found. The causative gene of cisAB was the AAAB allele, and the A and B alleles were not on one chromosome. The cisAB allele appeared to be a product of the normal A allele due to a point mutation at nucleotide position 803, from G to C. The AAAB allele is thought to be normally transcribed and translated to produce an unusual transferase polypeptide, which has weak A- and weaker B-specific activity. PCR-RFLP is a rapid and useful means of detecting the cisAB allele (the AAAB allele) without a family study, even when they have A1B3 and A2B phenotypes, because trans-type A1B3 and A2B samples have obviously different PCR-RFLP profiles.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0958-7578
pubmed:author
pubmed:issnType
Print
pubmed:volume
6
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
337-44
pubmed:dateRevised
2008-7-31
pubmed:meshHeading
pubmed:year
1996
pubmed:articleTitle
Rapid detection of the cisAB allele consisting of a chimera of normal A and B alleles by PCR-RFLPs.
pubmed:affiliation
Osaka Red Cross Blood Centre, Japan.
pubmed:publicationType
Journal Article