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Characterization of cDNA clones containing CCA trinucleotide repeats derived from human brain

Margolis, R. L.
Breschel, T. S.
Li, S. H.
Kidwai, A. S.
McInnis, M. G.
Ross, C. A.
Published in Somatic cell and molecular genetics. 1995, vol. 21, no. 4, p. 279-284
Abstract Expansion mutation is the cause of eight neuropsychiatric disorders. Thus far each disease is the result of expansion of a C-G rich trinucleotide repeat that is polymorphic for length in the general population. We now report the identification of seven novel cDNA clones with CCA or equivalent trinucleotide repeats obtained by screening a human frontal cortex cDNA library. The repeat lengths of two clones, CCA11 (linked to D20S101, expressed in human brain as a 3.2 kb message) and CCA38 (linked to D5S404), are highly polymorphic in a normal human population. CCA54, mapped to chromosome 19, appears to correspond to a portion of the human gene encoding the alpha 1 subunit of a P-type calcium channel. Expansion mutations at these loci should be considered as possible candidates in evaluating the genetic etiologies of diseases linked to chromosomes 5, 19, and 20.
Keywords Base SequenceBrain/ metabolismCalcium Channels/ geneticsChromosome MappingChromosomes, Human, Pair 19Cloning, MolecularDNA PrimersDNA, Complementary/chemistry/metabolismFrontal Lobe/ metabolismGene FrequencyHumansLinkage (Genetics)Macromolecular SubstancesMolecular Sequence DataNervous System Diseases/geneticsPolymerase Chain ReactionPolymorphism, GeneticPsychotic Disorders/geneticsRepetitive Sequences, Nucleic Acid
PMID: 8525433
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MARGOLIS, R. L. et al. Characterization of cDNA clones containing CCA trinucleotide repeats derived from human brain. In: Somatic cell and molecular genetics, 1995, vol. 21, n° 4, p. 279-284. doi: 10.1007/bf02255782 https://archive-ouverte.unige.ch/unige:9217

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