Identification of four novel polymorphisms in the calcitonin/alpha-CGRP (CALCA) gene and an investigation of their possible associations with Parkinson disease, schizophrenia, and manic depression
| Autor: | S, Buervenich, F, Xiang, O, Sydow, E G, Jönsson, G C, Sedvall, M, Anvret, L, Olson |
|---|---|
| Rok vydání: | 2001 |
| Předmět: |
Calcitonin
Male Sweden Bipolar Disorder Polymorphism Genetic Base Sequence Calcitonin Gene-Related Peptide Dopamine DNA Mutational Analysis Molecular Sequence Data Parkinson Disease Exons Introns United States White People Pedigree Gene Frequency Mutation Odds Ratio Schizophrenia Humans Female Amino Acid Sequence Promoter Regions Genetic Cell Line Transformed |
| Zdroj: | Human mutation. 17(5) |
| ISSN: | 1098-1004 |
| Popis: | We identified novel polymorphisms in the calcitonin/CGRPalpha (CALCA) gene by direct sequencing of genomic DNA and subsequent genotyping by RFLP (restriction fragment length polymorphism) detection and investigated association with neurological or psychiatric disease. Four novel polymorphic alleles were found: two (g.979GA and g.4218TC) represented single nucleotide polymorphisms (SNPs), one consisted of two coupled SNPs in close vicinity to each other (g.1210TC and g.1214CG), and one was an intronic 16-bp microdeletion (2919-2934del16). One of the SNPs (g.4218TC) causes a non-synonymous amino acid change (Leu66Pro) in the third exon, an exon common to both procalcitonin and pro-alpha-CGRP. In a subsequent association study, frequencies of the identified polymorphisms in Parkinson and schizophrenia patients were compared with frequencies in the normal population. No statistically significant association was found in our material. The 16-bp microdeletion polymorphism was present in a family with multiple cases of unipolar or bipolar depressive disorder. Using this polymorphism as marker, cosegregation with the phenotype was observed in the majority of individuals. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text