Abstract

Polymorphisms are distributed differently in populations, including those of regions, ethnic groups, and diseased patients. In order to investigate variation in nucleotide sequences in normal individuals, we isolated genomic DNA from the blood of healthy Japanese individuals and sequenced the 5'-untranslated region (5'-UTR) of the phosphatase and tensin homolog deleted on chromosome 10 (PTEN) gene and the gene promoter, intron, and exon nucleotides of p53, p14(ARF), murine double minute 2 (MDM2), and the beta2- and beta3-adrenoceptor (-AR). We found polymorphisms in these regions, including a deletion at positions -465 to -463 and a substitution at position -404 in PTEN and a substitution at position -4924 in p14(ARF), in normal individuals. Individuals with or without the PTEN polymorphism harbored a different distribution of polymorphisms, including simultaneous alterations in nucleotides of p53, MDM2, and beta3-AR, and also harbored some polymorphic nucleotides located in the same set of associatively altered nucleotides. Our results show that multiple nucleotides, including the PTEN nucleotides, are altered in normal Japanese individuals and provide useful information for genotyping studies in individuals and populations.

Authors

Ohsaka Y, Nishino H

Institution

Department of Biochemistry and Molecular Biology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Kawaramachi-Hirokoji, Kamigyo-ku, Kyoto 602-8566, Japan. y-ohsaka@cis.ac.jp

Source

T͡Sitologii͡a i genetika 46:2 pg 24-35

MeSH

5' Untranslated Regions
Asian Continental Ancestry Group
Base Sequence
DNA Mutational Analysis
Exons
Female
Genetic Testing
Genotype
Humans
Introns
Male
Molecular Sequence Data
PTEN Phosphohydrolase
Polymerase Chain Reaction
Polymorphism, Genetic
Proto-Oncogene Proteins c-mdm2
Receptors, Adrenergic, beta-2
Receptors, Adrenergic, beta-3
Tumor Suppressor Protein p14ARF
Tumor Suppressor Protein p53
Young Adult

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

22679820