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11.
12.
A. Alonso P. Martin C. Albarran M. Sancho 《International journal of legal medicine》1993,105(6):311-314
Summary The polymorphism of the D1S80 locus has been analyzed in a population sample of 203 unrelated individuals living in Madrid (central Spain) by PCR and subsequent semi-dry discontinuous polyacrylamide gel electrophoresis (Tris-chloride/Tris-glycine buffer system) followed by silver staining, The electrophoretic system described in this study offers high resolution in the separation of the different D1S80 alleles allowing the detection of microvariability around the allele T22 in the spanish population. Twenty different alleles containing 17–40 repeats of the basic 16bp unit were distinguished. The alleles T18 and T24 were found to be relatively common in Spain, as in other populations:, with frequencies of 0.224 and 0.372, respectively. No evidence of significant deviations from Hardy-Weinberg equilibrium was found in these preliminary population data. 相似文献
13.
Kazue Semba 《The Journal of comparative neurology》1993,330(4):543-556
Microinjection of cholinergic agonists in a dorsolateral part of the mesopontine tegmentum has been shown to induce a rapid eye movement (REM) sleep-like state. Physiological evidence indicates that not only acetylcholine but also various amine transmitters, including those implicated in behavioral state regulation, affect neuronal activity in this region of the pontine reticular formation. In the present study, sources of select aminergic and cholinergic inputs to this REM sleep induction zone were identified and quantitatively analyzed by using fluorescence retrograde tracing combined with immunofluorescence in the rat. In addition to previously demonstrated cholinergic projections from the pedunculopontine and laterodorsal tegmental nuclei, the REM sleep induction zone received various aminergic inputs that originated in widely distributed regions of the brainstem and hypothalamus. Serotoninergic afferents represented a mean of 44% of all aminergic/cholinergic source neurons projecting to the REM sleep induction zone, which was comparable to the mean percentage of 39% represented by cholinergic afferent neurons. The serotoninergic afferents originated from the raphe nuclei at all brainstem levels, with heavier projections from the pontine than from the medullary raphe nuclei. Unexpectedly, an additional major serotoninergic input was provided by serotoninergic neurons in the nucleus prosupralemniscus (B9). Noradrenergic afferent neurons represented a mean of 14% of all aminergic/cholinergic source neurons, which was only about one-third of the mean percentage of either cholinergic or serotoninergic source neurons. These noradrenergic projection neurons were located not only in the locus ceruleus (8%) but also in the lateral tegmentum, including the A5 (4%) and A7 (2%) cell groups. Histaminergic neurons in the tuberomammillary hypothalamic nucleus represented a minor group of afferent neurons (3%), and a still smaller input came from adrenegic C1 neurons. The pattern of these transmitter-specific afferent connections appeared to be similar regardless of the longitudinal level within the REM sleep induction zone. The present results are consistent with previous behavioral and physiological evidence for a role of the pontine REM sleep induction zone in triggering REM sleep. The regulation of REM sleep induction would be best understood in terms of a state-dependent interplay of cholinergic, serotoninergic, and other inputs all acting convergently upon neurons in the REM sleep-inducing region of the pontine reticular formation. 相似文献
14.
Petri S. Mattila Jan Schugk Hongyan Wu Olli Mkel 《European journal of immunology》1995,25(9):2578-2582
During the initial stages of B lymphocyte differentiation heavy chain variable (VH), diversity (DH) and joining (JH) gene segments recombine to form a functional heavy chain variable region (VDJ) gene. Evidence for genetic polymorphism of the human JH gene segments has been obtained from mature rearranged VDJ sequences. We conducted an analysis of the published rearranged JH gene sequences and found that the JH alleles present in the two published germ-line JH region sequences were rare (approx. 2%) in the rearranged sequences. As an attempt to explain this discrepancy a 2.5-kb strech of DNA containing all the six heavy chain JH region genes and the most 3' DH gene segment, DHQ52, was amplified by the polymerase chain reaction from 39 individuals and analyzed for restriction fragment length polymorphism. Five new JH region haplotypes were found and sequenced. These new haplotypes contained the coding segment alleles that were frequent in antibody genes. Surprisingly, a high number of interallelic differencies in the non-coding sequence was found between the new and the two previously published haplotypes implying that the haplotypes had been separated early in evolution. In this respect the JH locus resembles HLA loci. 相似文献
15.
中国人群DXS102座位多态性鉴定及其应用 总被引:13,自引:0,他引:13
目的探讨中国人群中DXS102座位的多态分布。方法应用PCR扩增片段长度多态性(Amp-FLP)研究了无亲缘关系的234条X染色体。结果DXS102座位等位片段有8个,核心单元AC二核苷酸重复数为13~21,频率分布在0.013~0.156之间,杂合度观察值和无偏估测值分别为0.87和0.80,多态信息含量(PIC)0.80,女性基因型数为22个,男性基因型数为8个,该座位多态分布符合Hardy-Weinberg平衡定律。DXS102座位在中国人群和欧洲人群的分布有明显的种族差异,在中国人群中发现了两个新的等位片段。应用DXS102座位的短串联重复序列多态性对一接受基因治疗的血友病B家系进行分析和携带者筛查。结论DXS102座位连锁分析有望成为一种有效的血友病B基因诊断的方法。 相似文献
16.
Summary
The present study was designed to investigate the relationships between premenstrual symptomatology, locus of control, anxiety,
and depression in women with normal menstrual cycles. Sixty-nine female participants completed a survey, comprised of the
Menstrual Distress Questionnaire (MDQ; Moos, 1968), Levenson's (1981) locus of control scales, the Depression Anxiety Stress
Scale (DASS; Lovibond and Lovibond, 1995), and a questionnaire constructed by the researchers based on the DSM-IV criteria
for Premenstrual Dysphoric Disorder (PMDD). Both overall and specific subtypes of premenstrual symptomatology were found to
correlate with external locus of control, anxiety, and depression. In addition, locus of control was found to moderate the
relationship between premenstrual symptomatology, anxiety and depression. Finally, women who were in the premenstrual phase
when completing the questionnaire scored significantly lower on the internal scale than those in either the follicular or
early luteal phases. It was concluded that an external locus of control may be associated with a susceptibility to depression
or anxiety when certain premenstrual or postmenstrual changes are experienced.
Received August 10, 2002; accepted January 12, 2003 Published online February 19, 2003
Abbreviations · ANOVA · Analysis of variance · DASS · Depression anxiety stress scale · LOC · Locus of control · MANOVA · Multivariate
analysis of variance · MDQ · Menstrual distress questionnaire · PMDD · Premenstrual dysphoric disorder · PMS · Premenstrual
syndrome
Acknowledgement The authors would like to thank John Reece, Department of Psychology and Disability Studies, RMIT University, Melbourne,
Australia, for assistance with data analysis.
Correspondence: Dr. Andrew Francis, Department of Psychology and Disability Studies, Faculty of Applied Science, RMIT University,
P.O. Box 71, Bundoora, Victoria 3083, Australia; e-mail: andrew.francis@rmit.edu.au 相似文献
17.
Liu Yang Tao Li Claudia Wiese Lars Lannfelt Pierre Sokoloff Chong T. Xu Zhong Zeng Jean-Charles Schwartz Xiehe Liu Hans W. Moises 《American journal of medical genetics. Part A》1993,48(2):83-86
The D3 dopamine receptor gene is an important candidate gene for schizophrenia, since (because of its almost exclusive expression in the limbic system) it combines the dopamine receptor hypothesis with the limbic system hypothesis of schizophrenia. A BalI restriction fragment length polymorphism of the D3 dopamine receptor gene has been typed in 107 schizophrenic patients and 98 normal controls from Sichuan (China). With regard to alleles or genotypes, no significant differences were obtained between controls from Europe and China, between patients and controls, and between patient subgroups and controls. These results indicate a lack of association between schizophrenia and the D3 dopamine receptor gene in our sample. Our findings are at variance with reports of a significant excess of homozygosity at the D3 dopamine receptor gene in schizophrenic patients from Wales (United Kingdom) and Alsace (France). In conclusion, further studies will be needed with larger samples of patients from Wales and Alsace as well as with samples of different racial groups to prove or disprove the initial positive association between schizophrenia and genotypes of the D3 dopamine receptor gene. © 1993 Wiley-Liss, Inc. 相似文献
18.
To discover the mechanisms of function of the locus coeruleus (LC), methods of light and electron microscopy were used to study the responses of neurons of this nucleus to experimental asphyxia. Besides specific neuronal effects (taking place either directly through axons of LC cells or indirectly through the brainstem reticular formation), LC was shown to have a humoral effect on the brain structures. Two possible mechanisms of transmission of catecholamines synthesized in the soma of the LC cells into the bloodstream are postulated: through the cell membrane and subsequently through the basement membrane of the capillary and cytoplasm of the endothelial cell, and with the participation of glial elements.P. K. Anokhin Institute of Normal Physiology, Academy of Medical Sciences of the USSR, Moscow. (Presented by Academician of the Academy of Medical Sciences of the USSR S. S. Debov.) Translated from Byulleten' Éksperimental'noi Biologii i Meditsiny, Vol. 84, No. 7, pp. 106–109, July, 1977. 相似文献
19.
L Léger Y Charnay J A Chayvialle A Bérod F Dray J F Pujol M Jouvet P M Dubois 《Neuroscience》1983,8(3):525-546
The distribution of tyrosine hydroxylase-, substance P- and enkephalin-immunoreactive neurons in the cat dorsolateral pons was studied using the indirect immunofluorescence method of Coons. To allow for the visualization of substance P- and enkephalin-immunoreactive cell bodies, colchicine was injected either in the ventricular space or in the cerebral tissue. The distribution of the tyrosine hydroxylase-immunoreactive cell bodies corresponded with the well-known distribution of catecholamine cells in this area of the brain. The observation of adjacent sections treated separately with tyrosine hydroxylase- and enkephalin-antiserum revealed that most catecholaminergic cells contain enkephalin-immunoreactivity. In addition to this catecholamine-enkephalin cell population, a moderate number of substance P-immunoreactive cell bodies was found in dorsolateral pons. The peribrachial nuclei were found to be densely supplied with substance P- and enkephalin-immunoreactive fibers, whereas the medial subdivisions, which contain the majority of the catecholamine cells in the dorsolateral pons, display a moderate number of immunoreactive fibers. These results are suggestive of interactions between peptide-containing and catecholaminergic neurons and also between-peptide-containing and non-catecholamine-containing neurons in the cat dorsolateral pons. 相似文献
20.
Horan M Millar DS Hedderich J Lewis G Newsway V Mo N Fryklund L Procter AM Krawczak M Cooper DN 《Human mutation》2003,21(4):408-423
The proximal promoter region of the human pituitary expressed growth hormone (GH1) gene is highly polymorphic, containing at least 15 single nucleotide polymorphisms (SNPs). This variation is manifest in 40 different haplotypes, the high diversity being explicable in terms of gene conversion, recurrent mutation, and selection. Functional analysis showed that 12 haplotypes were associated with a significantly reduced level of reporter gene expression whereas 10 haplotypes were associated with a significantly increased level. The former tend to be more prevalent in the general population than the latter (p<0.01), possibly as a consequence of selection. Although individual SNPs contributed to promoter strength in a highly interactive and non-additive fashion, haplotype partitioning was successful in identifying six SNPs as major determinants of GH1 gene expression. The prediction and functional testing of hitherto unobserved super-maximal and sub-minimal promoter haplotypes was then used to test the efficacy of the haplotype partitioning approach. Electrophoretic mobility shift assays demonstrated that five SNP sites exhibit allele-specific protein binding. An association was noted between adult height and the mean in vitro expression value corresponding to an individual's GH1 promoter haplotype combination (p=0.028) although only 3.3% of the variance of adult height was found to be explicable by reference to this parameter. Three additional SNPs, identified within sites I and II of the upstream locus control region (LCR), were ascribed to three distinct LCR haplotypes. A series of LCR-GH1 proximal promoter constructs were used to demonstrate that 1) the LCR enhanced proximal promoter activity by up to 2.8-fold depending upon proximal promoter haplotype, and that 2) the activity of a given proximal promoter haplotype was also differentially enhanced by different LCR haplotypes. The genetic basis of inter-individual differences in GH1 gene expression thus appears to be extremely complex. 相似文献