Document Detail

Analysis of the distribution of CAG repeats and X-chromosome inactivation status of HUMARA gene in healthy female subjects using improved fluorescence-based assay.
MedLine Citation:
PMID:  11721964     Owner:  NLM     Status:  MEDLINE    
We investigated the polymorphic CAG-repeat distribution and the X-inactivation status of the human androgen receptor (HUMARA) gene in 58 female Japanese volunteers. Polymerase chain reaction amplification was performed using a fluorescent-dye-labeled primer under conditions specific for GC-rich targets, and fragments were analyzed. To estimate the length of these fragments, FAM-labeled (blue fluorescent) products were simultaneously compared with ROM-labeled size markers (red) that were created by sequencing various HUMARA fragments. The number of polymorphic CAG repeats of HUMARA in 116 alleles from 58 female subjects ranged from 15 to 28. Of the 58 volunteers, 51 (88.0%) were heterozygous. In 96% of the heterozygous female subjects, the allelic differences were no greater than 6 repeats. X-chromosome inactivation was calculated as the ratio of the area of the smaller peak to the sum of the areas of the smaller and larger peaks. The average ratio was 0.38 (range, 0.09-0.50). Preferential use of 1 allele, by more than 75% (ratio. <0.25). was observed in 5 volunteers (10.9%). The clonal nature of a patient with chronic myelogenous leukemia was easily identified. This method is sensitive enough to discriminate a difference of 1 triplet repeat.
M Karasawa; N Tsukamoto; A Yamane; K Okamoto; T Maehara; A Yokohama; Y Nojima; M Omine
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  International journal of hematology     Volume:  74     ISSN:  0925-5710     ISO Abbreviation:  Int. J. Hematol.     Publication Date:  2001 Oct 
Date Detail:
Created Date:  2001-11-27     Completed Date:  2002-09-25     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9111627     Medline TA:  Int J Hematol     Country:  Ireland    
Other Details:
Languages:  eng     Pagination:  281-6     Citation Subset:  IM    
Blood Transfusion Service, Gunma University School of Medicine, Maebashi, Japan.
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MeSH Terms
Clonal Deletion
Clone Cells
Dosage Compensation, Genetic*
Fluorescent Dyes
GC Rich Sequence
Mosaicism / genetics
Polymerase Chain Reaction / methods,  standards
Polymorphism, Genetic / genetics
Receptors, Androgen / genetics*
Sensitivity and Specificity
Trinucleotide Repeats / genetics*
Reg. No./Substance:
0/AR protein, human; 0/Fluorescent Dyes; 0/Receptors, Androgen

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