Dopamine D-3 receptor gene: Organization, transcript variants, and polymorphism associated with schizophrenia
Yazarlar (13)
N Griffon
Ma Crocq
C Pilon
Mp Martres
A Mayerova
E Burgert
F Duval
Jp Macher
F Javoyagid
Ca Tamminga
Jc Schwartz
P Sokoloff
| Makale Türü | Özgün Makale (ESCI dergilerinde yayınlanan tam makale) | ||
| Dergi Adı | AMERICAN JOURNAL OF MEDICAL GENETICS | ||
| Dergi ISSN | 0148-7299 | ||
| Makale Dili | İngilizce | Basım Tarihi | 02-1996 |
| Kabul Tarihi | – | Yayınlanma Tarihi | 16-02-1996 |
| Cilt / Sayı / Sayfa | 67 / 1 / 63–70 | DOI | 10.1002/(SICI)1096-8628(19960216)67:1<63::AID-AJMG11>3.0.CO;2-N |
| Makale Linki | https://onlinelibrary.wiley.com/doi/10.1002/(SICI)1096-8628(19960216)67:1<63::AID-AJMG11>3.0.CO;2-N | ||
| UAK Araştırma Alanları |
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| Özet |
| DNA fragments from a genomic library were used to establish the partial structure of the human dopamine D3 receptor gene (DRD3). Its coding sequence contains 6 exons and stretches over 40,000 base pairs. The complete DRD3 transcript and three shorter variants, in which the second and/or third exon are deleted, were detected in similar proportions in brains from four controls and three psychiatric patients. The Msp I polymorphism was localized in the fifth intron of the gene, 40,000 base pairs downstream the Bal I polymorphism and a PCR-based method was developed for genotyping this polymorphism. The distribution of the Msp I and Bal I genotypes were not independent in 297 individuals (chi 2 = 10.5, df = 4, P = 0.03), but only a weak association was found between allele 1 of the Bal I polymorphism and allele 2 of the Msp I polymorphism (chi 2 = 3.99, df = 1, P = 0.04). The previously reported association between homozygosity at both alleles of the Bal I polymorphism and schizophrenia was presently maintained in an extended sample, comprising 119 DSM-III-R chronic schizophrenics and 85 controls (chi 2 = 5.3, df = 1, P = 0.02) and found more important in mal than in females. The presence of the Bal I allele 2 is associated with an early age at onset, particularly in males (df = 35, t value = 2.6, P = 0.014). In the same sample, allelic frequencies, genotype counts, and proportion of homozygotes for the Msp I polymorphism did not differ between schizophrenics and controls (chi 2 = 0.06, df = 1, P = 0.80, chi 2 = 0.22, df = 1, P = 0.90 and chi 2 = 0.16, df = 1, P = 0.69, respectively). The large distance of the Msp I polymorphism from the Bal I polymorphism and its localization in the 3' part of the gene may explain the discrepant results obtained with the two polymorphisms. |
| Anahtar Kelimeler |
| alternative splicing | splicing junction | Bal I polymorphism | Msp I polymorphism | polymerase chain reaction |
BM Sürdürülebilir Kalkınma Amaçları
| Atıf Sayıları | |
| Web of Science | 76 |
| PubMed | 15 |