Linked Life Data

10550557

Source:http://linkedlifedata.com/resource/pubmed/id/10550557

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PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
10
pubmed:dateCreated
1999-11-23
pubmed:abstractText
We analyzed the seven mutations which are responsible for the deficiency of the secretor type alpha(1,2)-fucosyltransferase gene product, Se enzyme, in the Philippine population. One hundred and one unrelated Filipinos in Taiwan were studied. A new mutation, a 3-base pair deletion from nt 688 through 690, was found in two (0. 1%) of 202 chromosomes. The frequencies of six other mutated alleles were as follows: 71/202 (35.2%) were cDNA 385 A-->T missensed mutation (se2), 28/202 (13.9%) were C571T nonsense mutation (se3), 16/202 (7.9%) were G849A nonsense mutation (se4), 4/202 (1.9%) were G428A nonsense mutation (se1), and 81/202 (40.1%) were wild-type allele (Se). No C628T nonsense mutations (se5) or fusion genes of pseudogene and FUT2 gene (se 6) were found in this population. For the molecular basis of phenotype Le(a+ b-): eight cases had se2/se2, six cases had se2/se3, two cases had se3/se4, one case was homozygous of se4, one case was se3/se1, and two cases were se2/se7. For the Le(a+ b+) phenotype: four cases had se2/se2, two cases had se2/se3, one case was se3/se3, and one case was se2/se4. For the Le(a- b+) phenotype: 16 cases were Se/Se, 21 cases were Se/se2, six cases were Se/se3, five cases were Se/se4, and two cases had Se/se1. Our results suggest that the genotypes of the alpha(1, 2)-fucosyltransferase gene in phenotypes Le(a+ b+) and Le(a+ b-) are the same. Other factors that play important roles may cause the differences between these two phenotypes. Several hotspot mutations in the alpha(1,2)-fucosyltransferase gene are responsible for the nonsecretor phenotype.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0939-5555
pubmed:author
pubmed:issnType
Print
pubmed:volume
78
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
463-7
pubmed:dateRevised
2005-1-18
pubmed:meshHeading
pubmed:year
1999
pubmed:articleTitle
Molecular characterization of secretor type alpha(1, 2)-fucosyltransferase gene deficiency in the Philippine population.
pubmed:affiliation
Department of Pediatrics, Division of Molecular Medicine, Department of Medical Research, China Medical College Hospital, 2, Yuh Der Road, Taichung, Taiwan.
pubmed:publicationType
Journal Article