Title |
Characterization of cDNA clones containing CCA trinucleotide repeats derived from human brain
|
---|---|
Published in |
Somatic Cell and Molecular Genetics, July 1995
|
DOI | 10.1007/bf02255782 |
Pubmed ID | |
Authors |
Russell L. Margolis, Theresa S. Breschel, Shi-Hua Li, Arif S. Kidwai, Stylianos E. Antonarakis, Melvin G. McInnis, Christopher A. Ross |
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. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 8 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 2 | 25% |
Student > Bachelor | 1 | 13% |
Professor > Associate Professor | 1 | 13% |
Unknown | 4 | 50% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 1 | 13% |
Business, Management and Accounting | 1 | 13% |
Agricultural and Biological Sciences | 1 | 13% |
Medicine and Dentistry | 1 | 13% |
Neuroscience | 1 | 13% |
Other | 0 | 0% |
Unknown | 3 | 38% |