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排序方式: 共有78条查询结果,搜索用时 15 毫秒
21.
Summary In the first section of this paper, various research designs in human behavior genetics are compared. In this context, the commonly used concept of biometric genetics is critically evaluated from the point of view of science theory. It is contrasted with the Mendelian gene concept, which, in principle, leads to a much deeper theoretical understanding by offering clues for basic mechanisms. To explore this advantage fully, a research strategy is needed that first looks for genetic variability in a physiological parameter of possible importance for human behavior and then tries to explore the influence of this parameter on the function of the human brain and on behavior. If possible, this genetic parameter should be selected in a way that inferences as to the mechanism of its influence on behavior become feasible. Such genetic variability is provided by the hereditary variants of the normal EEG discovered by earlier work (cf. Vogel, 1970). In the following section, a research program on 298 adult healthy males, most of them soldiers, with various inherited EEG variants is described. Apart from controls with inconspicuous EEGs, this material comprises probands with the following EEG variants: low-voltage (N); low-voltage borderline (NG); monotonous -waves (R); occipital fast -variants (BO); fronto-precentral -groups (BG), and diffuse -waves (BD). In addition to an EEG examination, the probands were examined with various test methods measuring intelligence (IST; LPS; Raven); working speed and concentration (d-2; KLT); personal attitudes (MMPI; 16 PF; RKS); and sensory and motor abilities (flicker fusion; tachistoscopy; reaction time to optic, acoustic and combined stimuli; two-hand dexterity; pursuit rotor; tapping).In a supplementary twin study on 52 male adult twin pairs (26 MZ, 26 DZ), heritabilities were determined for the test scores included in the main study. For most test scores, heritabilities are relatively low; the data are compared with those from the literature. We conclude that the test methods utilized in the main study (on EEG variants) are expected to demonstrate at the most a small to moderate correlation of the EEGs with psychological phenotypes as defined by test examinations, even if a major part of the genetic variability underlying these phenotypes would be due to differences in brain physiology that could be revealed by EEG variation. 相似文献
22.
Up to 5% of colorectal cancer cases are caused by a monogenic inherited disposition. Among these, hereditary nonpolyposis colorectal cancer (Lynch syndrome, HNPCC) accounts for 2–3% and adenomatous polyposis syndromes (familial adenomatous polyposis, FAP and MUTYH-associated polyposis, MAP) for about 1% of cases. Hamartomatous polyposis syndromes (juvenile polyposis syndrome, Peutz-Jeghers syndrome and Cowden syndrome) are rare disorders that are also associated with an increased colorectal cancer risk. The genetic basis is largely known for the tumour syndromes mentioned above. The identification of the causative germline mutation in the respective DNA repair genes (e.g. in HNPCC and MAP) or tumour suppressor genes (FAP or hamartomatous polyposis syndromes) allows confirmation of the diagnosis in affected individuals and provides predictive diagnostics for their healthy relatives. To achieve a targeted and useful molecular diagnostics, it is important that the clinician provides a detailed characterisation of the clinical picture; moreover, family history may also give a hint of the underlying gene defect. The screening of tumour tissue for the presence of a mismatch repair defect should precede mutation analysis in suspected cases of HNPCC, as it is difficult to differentiate between this condition and sporadic colorectal cancer. In contrast, mutation analysis can be directly performed in polyposis syndromes provided the syndrome has been correctly classified by the histology of polyps. 相似文献
23.
Betz RC Lee YA Bygum A Brandrup F Bernal AI Toribio J Alvarez JI Kukuk GM Ibsen HH Rasmussen HB Wienker TF Reis A Propping P Kruse R Cichon S Nöthen MM 《American journal of human genetics》2000,66(6):1979-1983
Hypotrichosis simplex of the scalp (HSS) is an autosomal dominant form of isolated alopecia causing almost complete loss of scalp hair, with onset in childhood. After exclusion of candidate regions previously associated with hair-loss disorders, we performed a genomewide linkage analysis in two Danish families and localized the gene to chromosome 6p21.3. This was confirmed in a Spanish family, with a total LOD score of 11.97 for marker D6S1701 in all families. The combined haplotype data identify a critical interval of 14.9 cM between markers D6S276 and D6S1607. Localization of the locus for HSS to 6p21.3 is a first step toward identification of the gene. The gene will give important insights into the molecular and cellular basis of hair growth on the scalp. 相似文献
24.
Genetic disorders presenting as “schizophrenia”. Karl bonhoeffer's early view of the psychoses in the light of medical genetics 总被引:3,自引:0,他引:3
P. Propping 《Human genetics》1983,65(1):1-10
There is overwhelming empirical evidence for the influence of genetic factors in the etiology of schizophrenic psychoses. An appreciable and still increasing number of exogenous factors have been known for decades that are capable of inducing psychoses that present as "schizophrenia" or are more or less similar to it. In this article, genetic disorders--chromosomal abnormalities and Mendelian diseases--are summarized that may be associated with such psychoses. These disorders frequently but not necessarily exhibit additional physical symptoms. Although the majority of schizophrenic psychoses can so far not be explained by exogenous factors or well-defined genetic disorders, the proportion of these etiologies among all cases may be higher than presumed so far, because they evade detection. Data from the literature are discussed in the light of Karl Bonhoeffer's early concept of exogenous reaction types and modern medical genetics. 相似文献
25.
P F Tauber L J Zaneveld D Propping G F Schumacher 《Journal of reproduction and fertility》1976,46(1):165-171
Lysozyme, alpha-amylase, neutral proteinase and plasminogen activator were most concentrated in the initial portion of the ejaculate that consists mostly of Cowper's gland and prostate gland fluids as well as spermatozoa. The concentration of the high molecular weight proteinase inhibitors, alpha1-antitrypsin and alpha1X-antichymotrypsin, was essentially unaltered throughout the ejaculate fractions, although their absolute amounts showed an increase towards the final fraction. By contrast, the total inhibitory activity towards pancreatic trypsin was highest both in concentration and amount in the last fraction, thus indicating that the seminal vesicles are its primary source. Plasminogen, prothrombin, Factor XIII, and the proteinase inhibitors antithrombin III, alpha2-macroglobulin, inter-alpha-trypsin inhibitor and C1S-inactivator could not be detected immunochemically in whole ejaculates, and indicates the dissimilarity between the coagulation/liquefaction processes of semen and blood. 相似文献
26.
J. Deckert Markus M. Nöthen Stephan P. Bryant Simone Schuffenhauer Peter R. Schofield Nigel K. Spurr Peter Propping 《Human genetics》1997,99(3):326-328
Chromosome 22 contains two potential schizophrenia loci on chromosomal regions 22q11.2 and 22q12–13. In the present study
we report results from linkage mapping of the gene coding for the human A2a adenosine receptor (AR), which is one of two receptors mediating central nervous system effects of adenosine. From seven
CEPH (Centre d’Etude du Polymorphisme Humain) families, 120 individuals were typed utilizing an intragenic restriction fragment
length polymorphism. Significant linkage was found with many markers on chromosome 22. A 10-cM 1000 :1 support interval between
markers D22S301 and D22S300 is defined on the CHLC (Cooperative Human Linkage Center) framework map of chromosome 22. Localization
of the A2aAR gene outside the CATCH 22 syndrome region on 22q11.2 is demonstrated by the observation of heterozygous individuals with
defined 2-Mb deletions from this region. Thus, the A2aAR gene is not the schizophrenia susceptibility gene suspected in the CATCH 22 syndrome region on 22q11.2, but remains a candidate
for a schizophrenia susceptibility gene on 22q12–13.
Received: 10 August 1996 相似文献
27.
Is the mismatch repair deficient type of Muir-Torre syndrome confined to mutations in the hMSH2 gene? 总被引:4,自引:0,他引:4
Roland Kruse Christof Lamberti Yaping Wang Corina Ruelfs Alexandra Bruns Clemens Esche Percy Lehmann Thomas Ruzicka Arno Rütten Waltraut Friedl Peter Propping 《Human genetics》1996,98(6):747-750
The Muir-Torre syndrome (MTS) is a rare autosomal-dominant condition characterized by the occurrence of sebaceous skin lesions
and internal tumours in a patient. It has been demonstrated that at least a subgroup of MTS exhibits clinical and molecular
genetic features of hereditary nonpolyposis colorectal cancer, including microsatellite instability in skin and visceral tumours,
because of mutations in DNA mismatch repair genes. We have identified germline mutations in the hMSH2 gene in two unrelated
MTS patients ascertained because of their skin tumours. Our results, together with published MTS cases, support the hypothesis
that MTS with its characteristic skin lesions is confined to mutations in the hMSH2 gene.
Received: 22 July 1996 / Revised: 12 August 1996 相似文献
28.
Further Characterization of the Avian Benzodiazepine Receptor Subunits Including Phylo-and Ontogenetic Aspects 总被引:3,自引:2,他引:1
Johannes Hebebrand Waltraut Friedl Klaus Kessler Maria Hewing Peter Propping 《Journal of neurochemistry》1987,49(6):1888-1893
The two avian benzodiazepine binding proteins offer an opportunity for further studies concerning their regional variation and their phylo- and ontogenetic development. Accordingly, regional variation of the benzodiazepine binding proteins is investigated further in two reptiles and chicken using photoaffinity labeling with [3H]flunitrazepam followed by sodium dodecyl sulfate-polyacrylamide gel electrophoresis and fluorography. Whereas regional heterogeneity is pronounced in chicken, it is not readily apparent in the two reptiles. The ontogeny of the benzodiazepine binding proteins in chicken forebrain and cerebellum is remarkably similar to that previously reported in rodents. The results are discussed in light of the possible existence of the gamma-aminobutyric acid/benzodiazepine receptor as an isoreceptor complex. 相似文献
29.
Benzodiazepine Receptor Subunits in Avian Brain 总被引:3,自引:2,他引:1
Johannes Hebebrand Waltraut Friedl Birgit Unverzagt Peter Propping 《Journal of neurochemistry》1986,47(3):790-793
Using sodium dodecyl sulfate-polyacrylamide gel electrophoresis and fluorography of the photoaffinity-labeled benzodiazepine receptor in duck brain, two equally intensive bands of relative molecular masses of 53,000 and 54,000 were observed, thus being identical to the subunit pattern previously described for chicken brain. An attempt was made to characterize further the avian subunits. Comparison of the fluorographic subunit pattern in cerebellum and telencephalon revealed a pronounced quantitative heterogeneity. Addition of ethyl beta-carboline-3-carboxylate resulted in the selective inhibition of the 53,000 subunit. These results are compared with the mammalian subunit pattern in the corresponding brain regions. The findings are discussed in view of the apparent contradiction between the existence of regional heterogeneity when photoaffinity labeling is applied and its lack when monoclonal antibodies are used. 相似文献
30.
Pseudodeficiency of arylsulfatase A: a common genetic polymorphism with possible disease implications 总被引:5,自引:2,他引:3
Charlotte Hohenschutz Peter Eich Waltraut Friedl Abdul Waheed Ernst Conzelmann Peter Propping 《Human genetics》1989,82(1):45-48
Summary The distribution and frequency of aphidicolin-induced common fragile sites were studied in chromosomes of cultured skin fibroblasts and PHA-stimulated lymphocytes from five normal individuals; 0.2 M aphidicolin was added for the last 26 h of culture. Skin fibroblasts from five fra(X)-positive patients were also studied in the same manner. Fragile sites most frequently found in fibroblasts from normal individuals were 3q26.2, 7q11.23, 16q23, 1p31, 10q11.2, 12q23 and 7q31, whereas those in lymphocytes from the same individuals were 3p14, 16q23, Xp22, 7q32 and 14q24. The distribution of fragile sites in fibroblasts from fra(X)-positive patients was essentially identical with that in normal individuals. The average number of gaps and breaks in 100 metaphases was 36.8 in fibroblasts from normal individuals, 113.8 in those from fra(X)-positive patients, and 279 in lymphocytes from normal individuals. Their rates of chromosome-type breaks and gaps were 7.9%, 29.7% and 54.5%, respectively. Thus, the distribution and frequency of aphidicolin-induced fragile sites were different between skin fibroblasts and lymphocytes, possibly reflecting differences in their DNA replication sequence or gene activity. 相似文献