DNA-diagnosis of familial case of kennedy's spinal and bulbar muscular atrophy

A. S. Petrukhin; N. N. Zavadenko; A. A. Petrukhin; O. V. Evgrafov

DNA-diagnosis of familial case of kennedy's spinal and bulbar muscular atrophy

A. S. Petrukhin, N. N. Zavadenko, A. A. Petrukhin, O. V. Evgrafov

Research output: Contribution to journal › Article › peer-review

Abstract

Seven relatives of previously described proband with X-linked Kennedy's spinal and bulbar muscular atrophy (SBMA) were investigated by means of clinical, biochemical and molecular genetic methods. The patients' age was 13-70 years. Clinical and biochemical investigations revealed SBMA in two males. Molecular genetic analysis by means of polymerase chain reaction (PCR) revealed pathological expansion of trinucleotide CAG repetitions in 5'-region of androgene receptor gene in both patients. Five heterozygous female-carriers were discovered meanwhile. PCR-method permitted to diagnose the disease exactly, to reveal heteroxygous carrier of pathological gene and to perform potential prenatal diagnosis.

Original language	English (US)
Pages (from-to)	45-48
Number of pages	4
Journal	Zhurnal Nevrologii i Psikhiatrii imeni S.S. Korsakova
Volume	97
Issue number	3
State	Published - 1997
Externally published	Yes

All Science Journal Classification (ASJC) codes

Clinical Neurology
Psychiatry and Mental health

Cite this

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abstract = "Seven relatives of previously described proband with X-linked Kennedy's spinal and bulbar muscular atrophy (SBMA) were investigated by means of clinical, biochemical and molecular genetic methods. The patients' age was 13-70 years. Clinical and biochemical investigations revealed SBMA in two males. Molecular genetic analysis by means of polymerase chain reaction (PCR) revealed pathological expansion of trinucleotide CAG repetitions in 5'-region of androgene receptor gene in both patients. Five heterozygous female-carriers were discovered meanwhile. PCR-method permitted to diagnose the disease exactly, to reveal heteroxygous carrier of pathological gene and to perform potential prenatal diagnosis.",

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AU - Zavadenko, N. N.

AU - Petrukhin, A. A.

AU - Evgrafov, O. V.

PY - 1997

Y1 - 1997

N2 - Seven relatives of previously described proband with X-linked Kennedy's spinal and bulbar muscular atrophy (SBMA) were investigated by means of clinical, biochemical and molecular genetic methods. The patients' age was 13-70 years. Clinical and biochemical investigations revealed SBMA in two males. Molecular genetic analysis by means of polymerase chain reaction (PCR) revealed pathological expansion of trinucleotide CAG repetitions in 5'-region of androgene receptor gene in both patients. Five heterozygous female-carriers were discovered meanwhile. PCR-method permitted to diagnose the disease exactly, to reveal heteroxygous carrier of pathological gene and to perform potential prenatal diagnosis.

AB - Seven relatives of previously described proband with X-linked Kennedy's spinal and bulbar muscular atrophy (SBMA) were investigated by means of clinical, biochemical and molecular genetic methods. The patients' age was 13-70 years. Clinical and biochemical investigations revealed SBMA in two males. Molecular genetic analysis by means of polymerase chain reaction (PCR) revealed pathological expansion of trinucleotide CAG repetitions in 5'-region of androgene receptor gene in both patients. Five heterozygous female-carriers were discovered meanwhile. PCR-method permitted to diagnose the disease exactly, to reveal heteroxygous carrier of pathological gene and to perform potential prenatal diagnosis.

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ER -

DNA-diagnosis of familial case of kennedy's spinal and bulbar muscular atrophy

Abstract

All Science Journal Classification (ASJC) codes

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