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

التفاصيل البيبلوغرافية
العنوان: Characterization of cDNA clones containing CCA trinucleotide repeats derived from human brain
المؤلفون: T. Breschel, Russell L. Margolis, Christopher A. Ross, Melvin G. McInnis, Arif S. Kidwai, Stylianos E. Antonarakis, Shihua Li
المصدر: Somatic Cell and Molecular Genetics, Vol. 21, No 4 (1995) pp. 279-284
سنة النشر: 1995
مصطلحات موضوعية: DNA, Complementary, Genetic Linkage, Macromolecular Substances, Population, Molecular Sequence Data, Biology, medicine.disease_cause, Nervous System Diseases/genetics, Polymerase Chain Reaction, Gene Frequency, Genetic linkage, Chromosome 19, Complementary DNA, Genetics, medicine, DNA, Complementary/chemistry/metabolism, Humans, ddc:576.5, Cloning, Molecular, education, Psychotic Disorders/genetics, Gene, DNA Primers, Repetitive Sequences, Nucleic Acid, Mutation, education.field_of_study, Calcium Channels/ genetics, Polymorphism, Genetic, Base Sequence, cDNA library, Linkage (Genetics), Brain, Chromosome Mapping, Cell Biology, General Medicine, Frontal Lobe/ metabolism, Molecular biology, Frontal Lobe, Psychotic Disorders, Brain/ metabolism, Calcium Channels, Nervous System Diseases, Trinucleotide repeat expansion, Chromosomes, Human, Pair 19
الوصف: 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.
تدمد: 0740-7750
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d106df253285e720b97707fb78529f91Test
https://pubmed.ncbi.nlm.nih.gov/8525433Test
حقوق: OPEN
رقم الانضمام: edsair.doi.dedup.....d106df253285e720b97707fb78529f91
قاعدة البيانات: OpenAIRE