TY - JOUR
T1 - Characterization of cDNA clones containing CCA trinucleotide repeats derived from human brain
AU - Margolis, Russell L.
AU - Breschel, Theresa S.
AU - Li, Shi Hua
AU - Kidwai, Arif S.
AU - Antonarakis, Stylianos E.
AU - McInnis, Melvin G.
AU - Ross, Christopher A.
PY - 1995/7
Y1 - 1995/7
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0029589935&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0029589935&partnerID=8YFLogxK
U2 - 10.1007/BF02255782
DO - 10.1007/BF02255782
M3 - Article
C2 - 8525433
AN - SCOPUS:0029589935
SN - 0740-7750
VL - 21
SP - 279
EP - 284
JO - Somatic Cell and Molecular Genetics
JF - Somatic Cell and Molecular Genetics
IS - 4
ER -