摘要:

Six kindreds containing multiple cases of manic-depressive illness were genotyped with highly polymorphic microsatellite polymorphisms for the D5 dopamine and α2C-adrenergic receptor genes. Evidence of linkage was not found assuming either autosomal dominant or recessive transmission. The non-parametric sib pair test did not yield evidence of linkage.

ISSN:0955-8829    

出版商:OVID    

年代:1994

数据来源: OVID

摘要:

Estimates of familial aggregation of psychiatric disorder obtained from relatives of probands ascertained in treatment settings may differ from estimates obtained from relatives of probands ascertained from the general population. In this paper we investigate this hypothesis for panic disorder, by comparing the degree of familial aggregation of panic disorder in relatives of probands with panic disorder ascertained from either a specialty anxiety clinic, a specialty depression clinic or a population survey, respectively. Results for panic disorder do not suggest that familial rates are associated with source of proband ascertainment. Results show that the rates of panic disorder in relatives were similar by proband source. This suggests that familial rates of panic disorder are not associated with proband ascertainment and that selecting probands from treatment clinics rather than from the general population does not necessarily lead to greater estimates of familial aggregation of panic disorder. Further research is needed to determine if this finding can be generalized to other psychiatric disorders.

ISSN:0955-8829    

出版商:OVID    

年代:1994

数据来源: OVID

摘要:

The morbidity risk assesses the risk of manifesting illnesses having a variable age at onset. We reviewed the conceptual derivation and critical assumptions of various methods for estimating morbidity risk by classifying them into two approaches. One approach uses an age at onset distribution as a weighting system. A second approach uses methods from survival analysis. Because survival methods estimate the morbidity risk and age at onset distribution simultaneously, they are preferable to weighting methods. Among weighting methods, Strömgren's estimator or Risch's maximum likelihood estimate are the methods of choice; the Kaplan-Meier estimator is the preferred survival analysis approach.

ISSN:0955-8829    

出版商:OVID    

年代:1994

数据来源: OVID

摘要:

We report here linkage data on two families with multiple cases of schizophrenia originating from the genetically isolated population of Finland. We analyzed chromosomal DNA regions containing relevant candidate genes for schizophrenia and chromosomal regions which have been among the most widely studied in schizophrenia research due to associations between chromosomal anomalies and schizophrenia observed in certain families or populations. These include the chromosomal regions 5q11-q13, 11q and 15q21 as well as gene loci coding for components of dopamine, serotonin and amino acid transmitter pathways. No evidence for linkage to any of the chromosomal regions or candidate genes could be obtained, our data in fact suggested exclusion of all these regions as the site for major predisposing loci for schizophrenia in our families. On the 11p region the lod scores obtained deviated in the two families, but the difference remained statistically insignificant. The data emphasize the importance of analyzing families even with restricted genetic background separately since locus heterogeneity is likely to be detected not only between ethnic groups but also between different diagnostic classes of the schizophrenia spectrum of diseases.

ISSN:0955-8829    

出版商:OVID    

年代:1994

数据来源: OVID

摘要:

The reserpine model and the reduced monoamine hypothesis of the depressive symptom spectrum suggest that the reserpine-sensitive brain vesicular monoamine transporter (VMT) is a candidate for susceptibility to affective disorder. VMT non-selectively accumulates cytoplasmic biogenic monoamine neurotransmitters into the storage vesicles of presynaptic neurons and blood platelets. Complementary DNA (cDNA) synthesized from platelet VMT mRNA was analyzed in 17 patients meeting DSM-III-R diagnostic criteria for major depressive or bipolar disorder and in four healthy controls, using polymerase chain reaction (PCR) amplification and direct sequencing. PCR sequencing of the protein coding region failed to reveal changes in the deduced amino acid sequence of the platelet/brain VMT (∼ 36 000 base pairs sequence screened). The results indicate that alterations in the primary structure of the VMT are not generally involved in the pathogenesis of unipolar depression and manic depressive illness.

ISSN:0955-8829    

出版商:OVID    

年代:1994

数据来源: OVID

摘要:

Nine multiplex schizophrenia familes were genotyped with polymorphisms for theGLUR5andNMDAR1glutamate receptor subunit genes. Using the lod score technique, evidence of linkage was not found assuming either dominant or recessive transmission. Similarly, the non-parametric sib pair test did not yield significant evidence of linkage.

ISSN:0955-8829    

出版商:OVID    

年代:1994

数据来源: OVID

摘要:

Tyrosine hydroxylase (TH) is the key enzyme in the synthesis of catecholamines and may therefore be of aetiological relevance in the development of psychiatric illness. Hipolar affective disorder association studies, with restriction fragment length polymorphisms located in flanking regions of the TH gene, have shown conflicting results. Alleles of a tetranucleotide repeat polymorphism (TH4) located in intron 1 of the gene were tested for association with bipolar affective disorder in a combined German and British sample of 183 bipolar patients and 209 healthy control probands. No differences in TH4 allele frequencies were found in the two groups. A subset of patients and controls was typed with the flanking markers Ty7/Bg/II and pJ4.7/TaqI and frequencies of two-locus haplotypes were estimated. Linkage disequilibrium was found between TH4-Ty7 and TH4-pJ4.7. Haplotype frequencies did not differ between patients and controls.

ISSN:0955-8829    

出版商:OVID    

年代:1994

数据来源: OVID

摘要:

The dopamine beta-hydroxylase (DBH) gene is a candidate gene in manic depressive illness. DBH is required for conversion of dopamine to norepinephrine, the third step in catecholamine biosynthesis. A few earlier linkage studies have found low to moderately positive lod scores in manic depressive families for ABO which is closely linked to DBH. Based on several studies an association between manic depressive illness and ABO blood type has been suggested. Mutations at the DBH locus might thus be involved in the etiology of manic depressive illness in some families. The DBH gene is reported here as unlikely to be a major gene causing manic depressive illness in a large family. Linkage was excluded assuming a dominant mode of transmission. Several methods were used to minimize misclassification.

ISSN:0955-8829    

出版商:OVID    

年代:1994

数据来源: OVID

摘要:

The gamma-aminobutyric acid (GABA) neurotransmitter system has been implicated in the pathogenesis of manic depression. Tests of this hypothesis can now be carried out due to the recent characterization of simple sequence repeat polymorphisms for the GABAAreceptor α1, α2, α4, α5, α6, β1, β3 and γ2 subunit genes. Using both parametric and non-parametric methods, we tested for linkage between manic depression and these polymorphisms in six multi-generational pedigrees. No evidence of linkage was found.

ISSN:0955-8829    

出版商:OVID    

年代:1994

数据来源: OVID