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Biomedical subjects

J D Rainer

Publications and source records attributed to J D Rainer.

At least 19 recordsLinked to original sources
PubMed1988

Molecular genetics and human disease. Implications for modern psychiatric research and practice.

Techniques of molecular genetics, including recombinant-DNA technology, are likely to have a key role in modern psychiatric research and practice. This article reviews some methods of DNA analysis and their applications to clinical science: specifically, how these methods can be used to localise, identify, isolate, and clone clinically important genes, and how this should enable us to elucidate the molecular pathology of most inherited (psychiatric) disorders. The implications of these developments for prevention and treatment of genetic disease are discussed.

Brain Chemistry↗
PubMed1985

A family study of schizophrenic and normal control probands: implications for the spectrum concept of schizophrenia.

Morbidity risks for mental illness were determined in 750 first-degree relatives of chronic schizophrenic and normal control probands. Psychiatric disorders that were more frequent in relatives of schizophrenic probands than in relatives of normal control probands were chronic schizophrenia (5.8% versus 0.6%), schizotypal personality disorder (definite, 14.6% versus 2.1%; probable, 12.1% versus 6.5%), and paranoid personality disorder (7.3% versus 2.3%). The data suggest that schizotypal and paranoid personality disorders are genetically related to schizophrenia. The implications for schizophrenia research are discussed.

Adolescent↗
PubMed1984

Genetic factors in depression and suicide.

There is a large body of evidence implicating a genetic factor in major affective disorder, particularly bipolar type. Studies of family risk, of twin concordance, and of adoptees and their families have contributed to this consensus. In the case of suicide, completed or attempted, the evidence is less clear. Twin studies have been based on a small number of pairs and have been inconclusive, and family and adoption studies have not yet satisfactorily separated suicide risk from risk for depression. Biological studies involving neurotransmitter levels suggest that suicide even without depression may be uniquely characterized, and there have been reports of associated brain-wave dysfunction. The interacting role of psychological or biological precipitating factors with the genetic component of psychosis or personality disorder still needs further clarification.

Adoption↗
PubMed1984

Sister chromatid exchanges and cell cycle kinetics in Alzheimer's disease.

Six female outpatients with Alzheimer's disease (AD) along with four female controls of a similar age range were analyzed for sister chromatid exchangers (SCEs), cell cycle kinetics, and sensitivity to mutagens, in lymphocyte cultures. The mean level of SCEs for the AD patients was 11.40 SCEs/metaphase, while that for the controls was 9.12. The difference between the two groups was significant as shown by the Wilcoxon rank-sum test (p = 0.05). Cell cycle was 50% longer both in the AD patients (31.7 hr) and aged controls (31.5 hr) than in normal young adults (21.76 hr). Mitomycin-C (MMC) decreased the mitotic index in AD patients by 35% and in controls by only 12%. MMC also increased the cell cycle duration in AD patients by a greater extent (20%) than it did in the controls (13.5%), and AD cells were more sensitive to the toxic effects of bromodeoxyuridine. What appeared to be chromosomes with prematurely divided centromeres were also observed in AD cells.

Aged↗
PubMed1983

Clastogenic effects of heroin in pregnant monkeys and their offspring.

Heroin was administered daily i.v. to pregnant Macaca mulatta monkeys, for 3 months, and after birth of their babies, was continued for 3 months post-partum. The dose was gradually increased to as high as 1.5 mg/kg/day. Pregnant control animals were given saline injections following the same design. WBC cultures for analysis of sister-chromatid exchanges (SCEs) and chromosome aberrations were taken from all adult animals, prior to heroin or saline administration, and also after 6 months, at time of sacrifice. Cultures were also done for all babies, and bone marrow analyses of aberrations were done on all animals at sacrifice. Both heroin mothers and babies showed a doubling in SCE level over their respective controls, and the heroin mothers demonstrated an almost 3-fold increase over their initial cultures. Heroin babies had 10 times as many chromosome aberrations in their WBC cultures as did their controls, and an equivalent increase in their bone marrow cells. The heroin mothers' final WBC cultures showed an increase in chromosome aberrations both over that of their initial cultures and those of their controls. The heroin babies demonstrated greater sensitivity to heroin, compared with their mothers, as measured by chromosome aberrations, but a corresponding sensitivity to SCE induction. No correlation in SCE levels was detected between individual pairs of mothers and babies, but there was one between the groups of mothers and babies. The route(s) through which the chromosomal alterations were inflicted in the babies could be transplacental, through the mother's milk, or both. The results of this investigation correspond with those of several previous studies on addict populations, and demonstrate that under these conditions, heroin is a chromosomal mutagen.

Aneuploidy↗
PubMed1981

X-linkage in bipolar affective illness. Perspectives on genetic heterogeneity, pedigree analysis and the X-chromosome map.

The search for genetic markers is a powerful strategy in psychiatric genetics. The present article examines four areas relevant to discrepancies among X-linkage studies in bipolar affective disorder. These are questions of ascertainment, analytic methods, the X-chromosome map and genetic heterogeneity. The following conclusions are reached: (a) Positive linkage findings cannot be attributed to ascertainment bias or association between affective illness and colorblindness. (b) The possibility that falsely positive linkage results were obtained by using inappropriate analytic methods is ruled out. (c) Reported linkages of bipolar illness to colorblind and G6PD loci are compatible with known map distances between X-chromosome loci. Linkage to the Xg antigen remains uncertain. (d) The discrepancy among the various data sets on affective illness and colorblindness is best explained by significant linkage heterogeneity among pedigrees informative for the two traits.

Bipolar Disorder↗
PubMed1981

Genetic analysis of Tourette syndrome suggesting major gene effect.

Data on Gilles de la Tourette syndrome are analyzed by multiple threshold models in inheritance that incorporate sex effect. The polygenic-multifactorial model is rejected. Single major locus inheritance can account for the data, although many of the occurrences of Tourette are due to nongenetic phenocopies. In both models, males and females share a common genetic environmental liability, but the less prevalent sex, that is, females, has a higher genetic loading for the disorder. The predicted population prevalences in the single major locus model are 2.3% for males and 0.8% for females. The implications for genetic and biological research in Tourette syndrome are discussed.

Female↗
PubMed1979

Nervous and mental disease. Genetics and the future of psychoanalysis.

Genetics has been associated with psychoanalytic theory since the earliest writings of Freud. Innate factors of constitution and heredity have been recognized in studies of adults and children, both retrospective and prospective. Contemporary genetics has become a science of gene expression and control, not merely of transmission, and its influence will illuminate processes of interaction in the development of affect and personality. As new genetic proposals and practices influence the choices and meanings of human life, they will have a profound effect on man's decisions, values, and self-image, and psychoanalysis will need to reaffirm its interpreative role. Finally, more effective prevention and treatment will be based on better appreciation of the interacting roles of genotype and environment.

Child↗
PubMed1979

Heredity and character disorders.

The role of heredity in personality development and character disorder has been studied by a variety of means. These include investigation of twins and/or families, using clinical ratings, personality scales, or psychological tests; observation of neonates and infants; and longitudinal description of discordant pairs of twins. Attention to the interaction of heredity and environment provides new strategies for prevention and treatment.

Adult↗
PubMed1978

A genetic study of schizophrenia pedigrees. II. One-locus hypotheses.

One-locus models have been fitted to two sets of two-generational families, studied by Kallmann because each contained a schizophrenic twin proband; in one set each twin proband was in the nuclear group, in the other in the peripheral group. Allowing for a lognormal age of onset distribution and a dependence of ascertainment probability on age of onset, the following hypotheses were tested and rejected: ascertainment probability is a noncurvilinear function of age of onset on a log-log scale; the transmission of schizophrenia is via one Mendelian locus, and the transmission of schizophrenia is independent of parental type. The last hypothesis is more likely than one-locus Mendelian inheritance, but it too must be rejected.

Alleles↗
PubMed1977

Schizophrenics' adopting parents. Psychiatric status.

With the exception of one finding in one experiment, adoption studies have demonstrated that genetic and not rearing factors play an etiological role in the schizophrenias. In that one study, clinical evaluations showed the biological parents of schizophrenics as more disturbed than the adopting parents of schizophrenics, who were, in turn, slightly more disturbed than the adopting parents of normal persons. Both the biological and the adopting parents of schizophrenics showed an equivalent degree of Rorschach pathology, suggesting the possible role of a learned communication disorder in the schizophrenic disorders. A replicative study were performed, employing the same design but utilizing a systematic sample. Structured interviews and tests were administered to the biological parents of nongenetic retardates. Structured clinical evaluation showed the biological parents of schizophrenics to be more disturbed than the other two groups, between whom there was no difference in psychopathology. With analysis of the Rorschach tests, the biological parents of schizophrenics showed significantly more Rorschach pathology than found in the other two groups, whose degree of disorder was the same. This study again confirms the role of genetic factors and fails to show an environmental component in the etiology of the schizophrenias.

Adoption↗
PubMed1977

Lithium and aggressive behavior in patients with early total deafness.

Patients with early total deafness frequently present with impulsive, aggressive behavior. Nine such inpatients were treated with Lithium. Two acting out adolescents showed a response to medication and a third personality disorder was dropped for side reactions. Of six schizophrenics, five responded in terms of aggressive behavior, while requiring continued medication with phenothiazines at notably lowered doses for their schizophrenic pathology.

Adolescent↗