摘要:

We have recently reported an association between a polymorphism of a variable number tandem repeat (VNTR) region of the serotonin transporter gene and susceptibility to major depressive disorder. We identified three alleles containing respectively 9 (STin2.9), 10 (STin2.10) and 12 (STin2.12) copies of a repetitive element. We report here the sequences of the three alleles. The repetitive element conformed to the consensus sequence, GGCTGYGACCY(R)GRRTG, where Y=T/C, R=G/A, with loss of the 12th base pair in one of the repeating elements. We have also extended the numbers of cases and controls in the study. The frequencies of the three alleles in 119 individuals with single or recurrent major depressive episodes, 128 individuals with bipolar disorder and a group of 346 controls were compared. There was a significant difference between patients with affective disorder and controls in the proportion of individuals carrying the STin2.9 allele. For the risk of unipolar disorder given a single STin2.9 allele, the odds ratio was 4.44 (95% Cl, 1.65–11.95) and for bipolar disorder 3.22 (95% Cl, 1.15–9.09). The findings support the hypothesis that allelic variation in the serotonin transporter gene may contribute to susceptibility for both major depression and bipolar disorder.

ISSN:0955-8829    

出版商:OVID    

年代:1996

数据来源: OVID

摘要:

It has been suggested on the basis of neuropathological and epidemiological evidence that schizophrenia is, at least in part, a neurodevelopmental illness. Some patients show abnormalities in cell position in the medial temporal lobes of their brains. Neurotrophin-3 is one of many proteins essential for the proper growth and development of the nervous system. Therefore the finding of a polymorphism near the promoter region of the gene, alleles of which were associated with the disease, prompted us to attempt replication. In a linkage and association analysis of the same polymorphism using familial schizophrenics and population controls we found no evidence to support the finding. We conclude that mutations or polymorphisms at this gene are unlikely to be involved in the genetic aetiology of schizophrenia.

ISSN:0955-8829    

出版商:OVID    

年代:1996

数据来源: OVID

摘要:

There have been reports of an association between Darier's disease, an autosomal dominant genodermatosis, and psychiatric illness. Recently the gene causing Darier's disease has been mapped to an area on 12q, between D12S58 and D12S84. The findings of linkage analysis of 4 markers in the Darier's disease region on 12q in five families segregating schizophrenia are presented. They fail to support close linkage between schizophrenia and the Darier's disease region on 12q.

ISSN:0955-8829    

出版商:OVID    

年代:1996

数据来源: OVID

摘要:

We detected aPstI restriction fragment length polymorphism in the 5‘-non-coding region of the dopamine D4 receptor gene (DRD4), making it the seventh known polymorphism forDRD4. DNA polymorphisms in the putative regulatory region ofDRD4are of interest because of the reported six-fold increase in D4 receptors in post-mortem schizophrenic brain tissue [Seeman P, Guan HC, Van Tol HHM (1993)Nature, 365, 441–445]. We found no difference in thePstI allele frequencies between DSM-III-R schizophrenia patients (0.76 and 0.24,n= 41), and matched control Caucasians (0.77 and 0.23,n= 46). ThePstIDRD4polymorphism has potential use in linkage and association studies with neuropsychiatric and cardiovascular disorders.

ISSN:0955-8829    

出版商:OVID    

年代:1996

数据来源: OVID

摘要:

We have previously described a pedigree in which affective disorder and Darier's disease cosegregate and, in an independent sample of 45 bipolar pedigrees, reported evidence in support of linkage between a putative susceptibility locus for bipolar disorder and markers in the Darier's disease region of chromosome 12q23-q24.1. The maximum evidence for linkage was given by a polymorphism at the gene encoding secretory phospholipase A2 (PLA2A), a candidate gene for affective disorder. Dawsonet al.(Psychiatric Genetics, 5, 177–180) recently reported allelic association with the same polymorphism atPLA2Ain a sample of 54 bipolar probands and 56 controls. We have been unable to replicate the association in 127 Caucasian British DSMIII-R bipolar probands and 223 Caucasian British controls. However, on the basis of several lines of evidence discussed in the paper, we believe that this genomic region in general, and thePLA2Agene in particular, are worthy of further study as candidates in the search for susceptibility genes for the functional psychoses.

ISSN:0955-8829    

出版商:OVID    

年代:1996

数据来源: OVID

摘要:

The frequency and extent of pairing failure around human translocations are unknown. We have examined the pattern of recombination around the breakpoints of a balanced autosomal translocation t(1;11) (q43;q21) associated with major mental illness. DNA was available from 17 carriers and 10 non-translocation carriers with meioses involving four generations. The derivative 1 and 11 chromosomes were also isolated in somatic cell hybrids and used to confirm phase. We have genotyped pedigree members using 20 polymorphic markers within 10 cM on either side of both chromosome 1 and 11 breakpoints. We find no significant reduction of recombination in the vicinity of either breakpoint. However we estimate that there are insufficient meioses even in this large family to make a meaningful interpretation and suggest that sperm typing alone can answer these interesting questions.

ISSN:0955-8829    

出版商:OVID    

年代:1996

数据来源: OVID

摘要:

We have carried out an association study of a polymorphism in the 3'UTR of the dopamine transporter gene (DAT) and a polymorphism in the coding region of the D3 receptor gene (DRD3) in Spanish patients with manic depression and in controls. No significant differences in allelic and genotypic frequencies of either of these polymorphisms was found in patients compared with controls.

ISSN:0955-8829    

出版商:OVID    

年代:1996

数据来源: OVID

ISSN:0955-8829    

出版商:OVID    

年代:1996

数据来源: OVID

ISSN:0955-8829    

出版商:OVID    

年代:1996

数据来源: OVID