| http://purl.uniprot.org/citations/16081582 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16081582 | http://www.w3.org/2000/01/rdf-schema#comment | "We studied the molecular genetic background of the B subgroup in the Chinese Han population and identified a novel allele at the ABO locus. Ten control samples from randomly selected blood donors of normal B phenotype and 6 samples from individuals diagnosed as B subgroup by serological tests were genotyped by PCR-SSP and direct DNA sequencing at exons 6 and 7 of the ABO gene. Exons 6 and 7 and the intervening intron 6 of B alleles from the 6 B subgroup samples were analyzed by cloning and haplotype-sequencing. A novel B variant allele was identified in 2 individuals who were serologically-determined as members of the B(x) and B(w) subgroups, respectively. The novel B allele differs from allele B101 by a single 695T>C missense mutation in exon 7. The family of the individual with B(x) subgroup was studied; among 8 family members tested, 4 had the novel B variant allele. No mutation at exon 6 or 7 of the ABO gene was detected in the 10 control samples or in the other 4 B subgroup samples. Mutation at position 695 where T is replaced by C results in an amino acid change from Leu to Pro, which is predicted to diminish B transferase activity. This indicates that alteration of the amino acid at position 232 is critical to the activity of glycosyltransferases."xsd:string |
| http://purl.uniprot.org/citations/16081582 | http://purl.uniprot.org/core/author | "Zhang X."xsd:string |
| http://purl.uniprot.org/citations/16081582 | http://purl.uniprot.org/core/author | "Yu Q."xsd:string |
| http://purl.uniprot.org/citations/16081582 | http://purl.uniprot.org/core/author | "Lian Y.L."xsd:string |
| http://purl.uniprot.org/citations/16081582 | http://purl.uniprot.org/core/author | "Su Y.Q."xsd:string |
| http://purl.uniprot.org/citations/16081582 | http://purl.uniprot.org/core/author | "Wu G.G."xsd:string |
| http://purl.uniprot.org/citations/16081582 | http://purl.uniprot.org/core/author | "Deng Z.H."xsd:string |
| http://purl.uniprot.org/citations/16081582 | http://purl.uniprot.org/core/date | "2005"xsd:gYear |
| http://purl.uniprot.org/citations/16081582 | http://purl.uniprot.org/core/name | "Ann Clin Lab Sci"xsd:string |
| http://purl.uniprot.org/citations/16081582 | http://purl.uniprot.org/core/pages | "265-269"xsd:string |
| http://purl.uniprot.org/citations/16081582 | http://purl.uniprot.org/core/title | "Identification of a novel B variant allele at the ABO locus in Chinese Han individuals with B subgroup."xsd:string |
| http://purl.uniprot.org/citations/16081582 | http://purl.uniprot.org/core/volume | "35"xsd:string |
| http://purl.uniprot.org/citations/16081582 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/16081582 |
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