Linked Life Data

16081582

Source:http://linkedlifedata.com/resource/pubmed/id/16081582

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2005-8-5
pubmed:abstractText
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0091-7370
pubmed:author
pubmed:issnType
Print
pubmed:volume
35
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
265-9
pubmed:meshHeading
pubmed:year
2005
pubmed:articleTitle
Identification of a novel B variant allele at the ABO locus in Chinese Han individuals with B subgroup.
pubmed:affiliation
Shen-Zhen Blood Center, Shen-Zhen Institute of Transfusion Medicine, Ni-Gang Xi Road, Mei-Gang Nan Street, Shen-Zhen, Guang-Dong Province, 518035, People's Republic of China. zhihui_deng@yahoo.com.cn
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't