title: CGG-repeat polymorphism of the BCR gene rules out predisposing alleles leading to the Philadelphia chromosome.
abstract: The Philadelphia chromosome (Ph) is associated with leukemia, most frequently of the chronic myelogenous variety. The Ph chromosome is a translocation chromosome which gains oncogenic potential through the fusion of the ABL oncogene of chromosome 9 with the BCR gene of chromosome 22. The Ph is believed to arise from random chromosome rearrangement with a subsequent selective advantage of the malignant cell line. However, alleles may be present in the population which predispose toward this specific rearrangement. We used a highly polymorphic CGG-repeat polymorphism within the first exon of the BCR gene to determine BCR allele frequencies among 26 leukemia patients with the Ph chromosome and 63 control individuals. Eight BCR alleles of variable CGG-repeat length were present in both groups at statistically similar frequencies and in Hardy-Weinberg equilibrium. We therefore concluded that there are no alleles of the BCR gene that have a major predisposing influence on the development of the Ph chromosome and subsequent leukemia.
authors.affiliation: Department of Biochemistry, Emory University School of Medicine, Atlanta, Georgia 30322.
authors.forename: G J
authors.initials: GJ
authors.lastname: Riggins
authors.forename: S L
authors.initials: SL
authors.lastname: Sherman
authors.forename: C N
authors.initials: CN
authors.lastname: Phillips
authors.forename: W
authors.initials: W
authors.lastname: Stock
authors.forename: C A
authors.initials: CA
authors.lastname: Westbrook
authors.forename: S T
authors.initials: ST
authors.lastname: Warren
mesh_terms: D000483:Alleles; D001483:Base Sequence; D005787:Gene Frequency; D016313:Genes, abl; D020022:Genetic Predisposition to Disease; D006402:Hematologic Diseases / Q000235:genetics; D006801:Humans; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics*; D008969:Molecular Sequence Data; D009369:Neoplasms / Q000235:genetics; D010677:Philadelphia Chromosome; D011110:Polymorphism, Genetic; D011505:Protein-Tyrosine Kinases; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D051562:Proto-Oncogene Proteins c-bcr; D011519:Proto-Oncogenes; D012091:Repetitive Sequences, Nucleic Acid
chemical_list: D011518:Proto-Oncogene Proteins; D011505:Protein-Tyrosine Kinases; C496613:BCR protein, human; D051562:Proto-Oncogene Proteins c-bcr