Somatic Cell and Molecular Genetics

, Volume 21, Issue 4, pp 279–284

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

  • Russell L. Margolis
  • Theresa S. Breschel
  • Shi-Hua Li
  • Arif S. Kidwai
  • Stylianos E. Antonarakis
  • Melvin G. McInnis
  • Christopher A. Ross
Brief Communication

DOI: 10.1007/BF02255782

Cite this article as:
Margolis, R.L., Breschel, T.S., Li, SH. et al. Somat Cell Mol Genet (1995) 21: 279. doi:10.1007/BF02255782

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 αl 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.

Copyright information

© Plenum Publishing Corporation 1995

Authors and Affiliations

  • Russell L. Margolis
    • 1
  • Theresa S. Breschel
    • 1
  • Shi-Hua Li
    • 1
  • Arif S. Kidwai
    • 1
  • Stylianos E. Antonarakis
    • 3
    • 4
  • Melvin G. McInnis
    • 1
  • Christopher A. Ross
    • 1
    • 2
    • 5
  1. 1.Laboratory of Molecular NeurobiologyJohns Hopkins University School of MedicineBaltimore
  2. 2.Departments of Psychiatry and NeuroscienceJohns Hopkins University School of MedicineBaltimore
  3. 3.Center for Medical GeneticsJohns Hopkins University School of MedicineBaltimore
  4. 4.Program in Cellular and Molecular MedicineJohns Hopkins University School of MedicineBaltimore
  5. 5.Department of GeneticsUniversity of GenevaGenevaSwitzerland
  6. 6.Baltimore