Margolis R L, Breschel T S, Li S H, Kidwai A S, Antonarakis S E, McInnis M G, Ross C A
Laboratory of Molecular Neurobiology, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205-2196, USA.
Somat Cell Mol Genet. 1995 Jul;21(4):279-84. doi: 10.1007/BF02255782.
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.
