Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17. 1989

J M Vance, and G A Nicholson, and L H Yamaoka, and J Stajich, and C S Stewart, and M C Speer, and W Y Hung, and A D Roses, and D Barker, and M A Pericak-Vance
Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710.

Charcot-Marie-Tooth disease Type 1 (CMT) is an inherited neuropathy with known genetic heterogeneity, with at least one autosomal dominant form (CMT Type 1b) linked to the Duffy region of chromosome 1. Autosomal dominant families not demonstrating linkage to the Duffy blood group marker have been designated CMT Type 1a. We report linkage of six CMT Type 1a families to the chromosome 17 markers EW301 (D17S58) and pA10-41 (D17S71) with maximum LOD scores of zeta = 10.49 at theta (maximum recombination fraction) = 0.05 and zeta = 7.36 at theta = 0.06, respectively.

UI MeSH Term Description Entries
D008040 Genetic Linkage The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME. Genetic Linkage Analysis,Linkage, Genetic,Analyses, Genetic Linkage,Analysis, Genetic Linkage,Genetic Linkage Analyses,Linkage Analyses, Genetic,Linkage Analysis, Genetic
D008126 Lod Score The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds." Lod Scores,Score, Lod,Scores, Lod
D008297 Male Males
D009134 Muscular Atrophy, Spinal A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089) Bulbospinal Neuronopathy,Oculopharyngeal Spinal Muscular Atrophy,Progressive Muscular Atrophy,Scapuloperoneal Form of Spinal Muscular Atrophy,Spinal Muscular Atrophy,Adult Spinal Muscular Atrophy,Adult-Onset Spinal Muscular Atrophy,Amyotrophy, Neurogenic Scapuloperoneal, New England Type,Distal Spinal Muscular Atrophy,Hereditary Motor Neuronopathy,Muscular Atrophy, Adult Spinal,Myelopathic Muscular Atrophy,Myelopathic Muscular Atrophy, Progressive,Progressive Myelopathic Muscular Atrophy,Progressive Proximal Myelopathic Muscular Atrophy,Proximal Myelopathic Muscular Atrophy, Progressive,Scapuloperoneal Spinal Muscular Atrophy,Spinal Amyotrophy,Spinal Muscular Atrophy, Distal,Spinal Muscular Atrophy, Oculopharyngeal,Spinal Muscular Atrophy, Scapuloperoneal,Spinal Muscular Atrophy, Scapuloperoneal Form,Adult Onset Spinal Muscular Atrophy,Amyotrophies, Spinal,Amyotrophy, Spinal,Atrophies, Progressive Muscular,Atrophy, Myelopathic Muscular,Atrophy, Progressive Muscular,Atrophy, Spinal Muscular,Bulbospinal Neuronopathies,Hereditary Motor Neuronopathies,Motor Neuronopathies, Hereditary,Motor Neuronopathy, Hereditary,Muscular Atrophies, Progressive,Muscular Atrophy, Myelopathic,Muscular Atrophy, Progressive,Neuronopathies, Bulbospinal,Neuronopathies, Hereditary Motor,Neuronopathy, Bulbospinal,Neuronopathy, Hereditary Motor,Progressive Muscular Atrophies,Spinal Amyotrophies
D011995 Recombination, Genetic Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses. Genetic Recombination,Recombination,Genetic Recombinations,Recombinations,Recombinations, Genetic
D002607 Charcot-Marie-Tooth Disease A hereditary motor and sensory neuropathy transmitted most often as an autosomal dominant trait and characterized by progressive distal wasting and loss of reflexes in the muscles of the legs (and occasionally involving the arms). Onset is usually in the second to fourth decade of life. This condition has been divided into two subtypes, hereditary motor and sensory neuropathy (HMSN) types I and II. HMSN I is associated with abnormal nerve conduction velocities and nerve hypertrophy, features not seen in HMSN II. (Adams et al., Principles of Neurology, 6th ed, p1343) Atrophy, Muscular, Peroneal,HMSN Type I,HMSN Type II,Hereditary Motor and Sensory-Neuropathy Type II,Hereditary Motor, and Sensory Neuropathy Type I,Muscular Atrophy, Peroneal,Peroneal Muscular Atrophy,Roussy-Levy Syndrome,Charcot-Marie Disease,Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1A,Charcot-Marie-Tooth Disease, Autosomal Dominant, with Focally Folded Myelin Sheaths, Type 1B,Charcot-Marie-Tooth Disease, Demyelinating, Type 1A,Charcot-Marie-Tooth Disease, Demyelinating, Type 1B,Charcot-Marie-Tooth Disease, Slow Nerve Conduction Type, Linked To Duffy,Charcot-Marie-Tooth Disease, Type 1A,Charcot-Marie-Tooth Disease, Type 1B,Charcot-Marie-Tooth Disease, Type I,Charcot-Marie-Tooth Disease, Type IA,Charcot-Marie-Tooth Disease, Type IB,Charcot-Marie-Tooth Disease, Type II,Charcot-Marie-Tooth Hereditary Neuropathy,Charcot-Marie-Tooth Neuropathy, Type 1A,Charcot-Marie-Tooth Neuropathy, Type 1B,Charcot-Marie-Tooth Syndrome,HMN Distal Type I,HMSN 1A,HMSN 1B,HMSN I,HMSN IA,HMSN IB,HMSN II,HMSN1A,HMSN1B,Hereditary Areflexic Dystasia,Hereditary Motor And Sensory Neuropathy IB,Hereditary Motor and Sensory Neuropathy 1A,Hereditary Motor and Sensory Neuropathy 1B,Hereditary Motor and Sensory Neuropathy IA,Hereditary Type I Motor and Sensory Neuropathy,Neuropathy, Type I Hereditary Motor and Sensory,Neuropathy, Type II Hereditary Motor and Sensory,Roussy Levy Hereditary Areflexic Dystasia,Roussy-Levy Disease,Roussy-Levy Hereditary Areflexic Dystasia,Areflexic Dystasia, Hereditary,Areflexic Dystasias, Hereditary,Atrophies, Peroneal Muscular,Atrophy, Peroneal Muscular,Charcot Marie Disease,Charcot Marie Tooth Disease,Charcot Marie Tooth Disease, Type 1A,Charcot Marie Tooth Disease, Type 1B,Charcot Marie Tooth Disease, Type I,Charcot Marie Tooth Disease, Type IA,Charcot Marie Tooth Disease, Type IB,Charcot Marie Tooth Disease, Type II,Charcot Marie Tooth Hereditary Neuropathy,Charcot Marie Tooth Neuropathy, Type 1A,Charcot Marie Tooth Neuropathy, Type 1B,Charcot Marie Tooth Syndrome,Dystasia, Hereditary Areflexic,Dystasias, Hereditary Areflexic,Hereditary Areflexic Dystasias,Hereditary Motor and Sensory Neuropathy Type II,Hereditary Neuropathy, Charcot-Marie-Tooth,Muscular Atrophies, Peroneal,Peroneal Muscular Atrophies,Roussy Levy Disease,Roussy Levy Syndrome,Syndrome, Charcot-Marie-Tooth,Syndrome, Roussy-Levy
D002869 Chromosome Aberrations Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS. Autosome Abnormalities,Cytogenetic Aberrations,Abnormalities, Autosome,Abnormalities, Chromosomal,Abnormalities, Chromosome,Chromosomal Aberrations,Chromosome Abnormalities,Cytogenetic Abnormalities,Aberration, Chromosomal,Aberration, Chromosome,Aberration, Cytogenetic,Aberrations, Chromosomal,Aberrations, Chromosome,Aberrations, Cytogenetic,Abnormalities, Cytogenetic,Abnormality, Autosome,Abnormality, Chromosomal,Abnormality, Chromosome,Abnormality, Cytogenetic,Autosome Abnormality,Chromosomal Aberration,Chromosomal Abnormalities,Chromosomal Abnormality,Chromosome Aberration,Chromosome Abnormality,Cytogenetic Aberration,Cytogenetic Abnormality
D002886 Chromosomes, Human, Pair 17 A specific pair of GROUP E CHROMOSOMES of the human chromosome classification. Chromosome 17
D004247 DNA A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine). DNA, Double-Stranded,Deoxyribonucleic Acid,ds-DNA,DNA, Double Stranded,Double-Stranded DNA,ds DNA
D005260 Female Females

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