Abstract
We detected androgen receptor (AR) mRNA expression in various tissues in the patients with X-BSNP and controls using reverse transcription polymerase chain reaction (RT-PCR) and Northern blot analysis. The AR mRNAs were expressed in a wide variety of tissues including the testis, scrotal skin, liver, skeletal and cardiac muscles, sciatic nerve, sympathetic and dorsal root ganglia and spinal cord, and were all abnormally elongated in the size of the CAG repeat in the patients. The mutant AR gene with increased size of tandem CAG repeat was directly transcribed in various tissues, and would be related to a wide spectrum of phenotypic manifestations in X-BSNP.
Publication types
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Comparative Study
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Research Support, Non-U.S. Gov't
MeSH terms
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Base Sequence
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DNA Mutational Analysis
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Hereditary Sensory and Motor Neuropathy / genetics*
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Hereditary Sensory and Motor Neuropathy / metabolism
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Humans
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Male
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Middle Aged
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Minisatellite Repeats*
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Molecular Sequence Data
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Motor Neurons / metabolism
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Motor Neurons / pathology
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Muscles / metabolism
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Nerve Tissue Proteins / biosynthesis
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Nerve Tissue Proteins / genetics*
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Nervous System / metabolism
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Organ Specificity
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Polymerase Chain Reaction
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RNA, Messenger / biosynthesis
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RNA, Messenger / chemistry*
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RNA, Messenger / genetics
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Receptors, Androgen / biosynthesis
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Receptors, Androgen / genetics*
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Scrotum / metabolism
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Testis / metabolism
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Viscera / metabolism
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X Chromosome
Substances
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Nerve Tissue Proteins
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RNA, Messenger
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Receptors, Androgen