Document Detail


Trinucleotide repeats at the rad locus. Allele distributions in NIDDM and mapping to a 3-cM region on chromosome 16q.
MedLine Citation:
PMID:  7859947     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A 10-allele polymorphism was identified in rad (ras associated with diabetes), a gene that is overexpressed in non-insulin-dependent diabetes mellitus (NIDDM) muscle. The polymorphism, designated RAD1, consists of a variable number of trinucleotide repeats (GTT and ATT) located in the poly(A) region of an intronic Alu sequence. Based on the number of GTT and ATT repetitions, the alleles can be grouped into four classes (I-IV). RAD1 allele frequencies were determined in 210 NIDDM patients and 133 nondiabetic control subjects, all Caucasians. One allele (number 8, class III) accounted for > 80% of the chromosomes in both groups. However, an excess of minor alleles, all belonging to class I, II, or IV, was observed among NIDDM chromosomes (P < 0.025), suggesting a possible association between RAD1 and NIDDM predisposition. To promote further studies to test the hypothesis that genetic variability at the rad locus contributes to NIDDM, we mapped rad on the human genome. Using the fluorescence in situ chromosomal hybridization technique, rad was unequivocally assigned to chromosomal band 16q22. In families that were informative for RAD1, the rad locus was mapped within a 3-cM region defined by the markers D16S265, D16S186, and D16S397 (logarithm of odds scores = 10.08, 10.9, and 10.84 at recombination fractions of 0.024, 0.001, and 0.03, respectively). The high degree of heterozygosity of these markers will allow large-scale family studies to be performed to test the presence of linkage between rad and NIDDM.
Authors:
A Doria; J S Caldwell; L Ji; C Reynet; S S Rich; S Weremowicz; C C Morton; J H Warram; C R Kahn; A S Krolewski
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Diabetes     Volume:  44     ISSN:  0012-1797     ISO Abbreviation:  Diabetes     Publication Date:  1995 Feb 
Date Detail:
Created Date:  1995-03-21     Completed Date:  1995-03-21     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  0372763     Medline TA:  Diabetes     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  243-7     Citation Subset:  AIM; IM    
Affiliation:
Research Division, Joslin Diabetes Center, Boston, MA 02215.
Data Bank Information
Bank Name/Acc. No.:
GENBANK/S76623;  S76629
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MeSH Terms
Descriptor/Qualifier:
Alleles*
Base Sequence
Chromosome Mapping*
Chromosomes, Human, Pair 16*
Diabetes Mellitus, Type 2 / genetics*
Genes, ras
Genotype
Humans
In Situ Hybridization, Fluorescence
Molecular Sequence Data
Polymorphism, Restriction Fragment Length
Repetitive Sequences, Nucleic Acid*
Grant Support
ID/Acronym/Agency:
DK-45935/DK/NIDDK NIH HHS; P30-DK-36836/DK/NIDDK NIH HHS

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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