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Title of Journal: Int J Hematol

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Abbravation: International Journal of Hematology

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Springer Japan

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DOI

10.1007/bf02436790

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1865-3774

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Analysis of the Distribution of CAG Repeats and X

Authors: Masamitsu Karasawa Norifumi Tsukamoto Arito Yamane Kiyoshi Okamoto Tadashi Maehara Akihiko Yokohama Yoshihisa Nojima Mitsuhiro Omine
Publish Date: 2001/10/16
Volume: 74, Issue: 3, Pages: 281-286
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Abstract

We investigated the polymorphic CAGrepeat distribution and the Xinactivation status of the human androgen receptor HUMARA gene in 58 female Japanese volunteers Polymerase chain reaction amplification was performed using a fluorescentdyelabeled primer under conditions specific for GCrich targets and fragments were analyzed To estimate the length of these fragments FAMlabeled blue fluorescent products were simultaneously compared with ROMlabeled 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 51 880 were heterozygous In 96 of the heterozygous female subjects the allelic differences were no greater than 6 repeats Xchromosome 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 038 range 009050 Preferential use of 1 allele by more than 75 ratio 025 was observed in 5 volunteers 109 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

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