Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2000-10-31
pubmed:abstractText
Bernard-Soulier syndrome (BSs) is a rare bleeding disorder characterized by circulating giant platelets, thrombocytopenia, and a prolonged bleeding time. BSs usually has an autosomal recessive inheritance pattern, with a preponderance of Caucasian and Japanese ancestry when the ethnic background has been reported. Underlying this disorder of platelet function is a defect in the platelet glycoprotein (GP) Ib-IX-V complex, composed of four polypeptides, GP Ib alpha, GP Ib beta, GP IX, and GP V. Molecular characterization of individuals with BSs has identified mutations in the GP Ib alpha, GP Ib beta, and GP IX genes responsible for the expressed phenotype. In this study, we report a family of African-American descent, with autosomal recessive BSs showing a point mutation in codon 129 of the GP Ib alpha gene. This mutation, CTC:wild-type to CCC:mutant, is similar to that of another African American family where the resulting leucine to proline substitution in the 5(th) leucine-rich repeat of GP Ib alpha is responsible for the observed BSs phenotype. Comparison of the intragenic polymorphisms of GP Ib alpha, as well as microsatellite markers in a 17.5 cM region of chromosome 17p12 that contains the GP Ib alpha gene, suggests that, although socially unrelated, the Leu129Pro mutation in these two families has a common founder.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0361-8609
pubmed:author
pubmed:copyrightInfo
Copyright 2000 Wiley-Liss, Inc.
pubmed:issnType
Print
pubmed:volume
65
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
141-8
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed-meshheading:10996832-Africa, pubmed-meshheading:10996832-African Continental Ancestry Group, pubmed-meshheading:10996832-Bernard-Soulier Syndrome, pubmed-meshheading:10996832-Chromosomes, Human, Pair 17, pubmed-meshheading:10996832-Consensus Sequence, pubmed-meshheading:10996832-DNA Mutational Analysis, pubmed-meshheading:10996832-Family Health, pubmed-meshheading:10996832-Female, pubmed-meshheading:10996832-Homozygote, pubmed-meshheading:10996832-Humans, pubmed-meshheading:10996832-Microsatellite Repeats, pubmed-meshheading:10996832-Middle Aged, pubmed-meshheading:10996832-Pedigree, pubmed-meshheading:10996832-Platelet Glycoprotein GPIb-IX Complex, pubmed-meshheading:10996832-Point Mutation, pubmed-meshheading:10996832-Polymorphism, Genetic, pubmed-meshheading:10996832-United States
pubmed:year
2000
pubmed:articleTitle
Bernard-Soulier syndrome: common ancestry in two African American families with the GP Ib alpha Leu129Pro mutation.
pubmed:affiliation
Department of Medicine, Christiana Care Health System, Wilmington, Delaware, USA.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't