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Marker chromosome 14q+ in two non-Burkitt lymphomas. 两个非伯基特淋巴瘤的标记染色体14q+。
Humangenetik Pub Date : 1975-11-06 DOI: 10.1007/BF00291942
E L Prigogina, E W Fleischman
{"title":"Marker chromosome 14q+ in two non-Burkitt lymphomas.","authors":"E L Prigogina,&nbsp;E W Fleischman","doi":"10.1007/BF00291942","DOIUrl":"https://doi.org/10.1007/BF00291942","url":null,"abstract":"<p><p>Marker chromosome 14q+, similar to the specific marker of the Burkitt lymphoma, was revealed in all malignant blood cells of a patient with generalized lymphosarcoma, in all lymph node cells, and in a part of the blood cells of a patient with chronic lymphocytic leukaemia. Possible causes of this similarity are discussed.</p>","PeriodicalId":75916,"journal":{"name":"Humangenetik","volume":"30 2","pages":"109-12"},"PeriodicalIF":0.0,"publicationDate":"1975-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/BF00291942","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"12419818","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 9
Tandem duplication q14 and dicentric formation by end-to-end chromosome fusions in ataxia telandiectasia (AT). Clinical and cytogenetic findings in 5 patients. 染色体端到端融合在完全性共济失调(AT)中的串联重复q14和双中心形成。5例患者的临床及细胞遗传学表现。
Humangenetik Pub Date : 1975-11-06 DOI: 10.1007/BF00291946
K Hayashi, W Schmid
{"title":"Tandem duplication q14 and dicentric formation by end-to-end chromosome fusions in ataxia telandiectasia (AT). Clinical and cytogenetic findings in 5 patients.","authors":"K Hayashi,&nbsp;W Schmid","doi":"10.1007/BF00291946","DOIUrl":"https://doi.org/10.1007/BF00291946","url":null,"abstract":"<p><p>Chromosome studies on lymphocyte cultures were performed in 5 patients with AT, 2 of whom had been followed for 4 years. Four out of these patients showed an increased incidence of chromosome-type aberrations. A clonal development was present in one patient, 96% of his metaphases containing a tandem duplication of almost the entire long arm 14. Four years earlier the proportion of these cells was 80%. Two other patients presented a small proportion of cells with an unidentified abnormally long D chromosome. In a total of 724 metaphases from 4 patients 31 dicentric chromosomes were observed, all of a peculiar type; in their formation no chromosome material was lost and they all seem to have arisen by end-to-end fusions. The incidence of chromatid-type aberrations was normal or at the upper limit of control values in all 5 cases. The sister chromatid exchange rate studied with BUDR in 3 patients was found to be normal.</p>","PeriodicalId":75916,"journal":{"name":"Humangenetik","volume":"30 2","pages":"135-41"},"PeriodicalIF":0.0,"publicationDate":"1975-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/BF00291946","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"12371014","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 60
Predominance of the haemoglobin E gene in a Mongoloid population in Assam (India). 印度阿萨姆邦蒙古人种中血红蛋白E基因的优势。
Humangenetik Pub Date : 1975-11-06 DOI: 10.1007/BF00291953
B M Das, R Deka
{"title":"Predominance of the haemoglobin E gene in a Mongoloid population in Assam (India).","authors":"B M Das,&nbsp;R Deka","doi":"10.1007/BF00291953","DOIUrl":"https://doi.org/10.1007/BF00291953","url":null,"abstract":"<p><p>A high frequency of the haemoglobin E gene (HbbetaE) had been found in 1972 in the Ahom, a mongoloid population in Upper Assam. The present study confirms frequencies between 0.3 and 0.35 for this population in a larger sample from different areas. An even higher frequency near 0.5 was found in the Kachari of Upper Assam, a tribe of the tibetoburman Bodo group. HbbetaE frequencies in these groups are compared with the frequencies in the general Assamese population and the austroasiatic Khasi of Meghalaya.</p>","PeriodicalId":75916,"journal":{"name":"Humangenetik","volume":"30 2","pages":"187-91"},"PeriodicalIF":0.0,"publicationDate":"1975-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/BF00291953","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"12370790","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 14
[Trisomy 4p. Three new observations (author's transl)]. [三染色体细胞4 p。三个新的观察[作者的翻译]。
Humangenetik Pub Date : 1975-11-06 DOI: 10.1007/BF00291941
F Giraud, J F Mattei, M G Mattei, S Ayme, R Bernard
{"title":"[Trisomy 4p. Three new observations (author's transl)].","authors":"F Giraud,&nbsp;J F Mattei,&nbsp;M G Mattei,&nbsp;S Ayme,&nbsp;R Bernard","doi":"10.1007/BF00291941","DOIUrl":"https://doi.org/10.1007/BF00291941","url":null,"abstract":"<p><p>Three new observations of trisomy 4p are reported. Two are due to a maternal translocation t(4;15). The third is due to a \"mirror\" duplication, it is the first case of trisomy 4p without balanced parental rearrangement. The very characteristic phenotype is compared to that of 13 other patients already reported in the literature.</p>","PeriodicalId":75916,"journal":{"name":"Humangenetik","volume":"30 2","pages":"99-108"},"PeriodicalIF":0.0,"publicationDate":"1975-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/BF00291941","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"12370792","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 8
Does alpha-1-antitrypsin P1 null phenotype exist? α -1-抗胰蛋白酶P1零表型存在吗?
Humangenetik Pub Date : 1975-11-06 DOI: 10.1007/BF00291944
J P Martin, R Sesboue, R Charlionet, C Ropartz
{"title":"Does alpha-1-antitrypsin P1 null phenotype exist?","authors":"J P Martin,&nbsp;R Sesboue,&nbsp;R Charlionet,&nbsp;C Ropartz","doi":"10.1007/BF00291944","DOIUrl":"https://doi.org/10.1007/BF00291944","url":null,"abstract":"<p><p>A second case of Pi null alpha-1-antitrypsin (AA) deficiency is described. In fact, the serum's subject contains 5 mug of AA per millilitre. With radiolabelled specific antibodies, it is possible to describe the Pi phenotype associated to this deficiency. The pattern which is obtained is like the ordinary Pi M, but 500 times lower than normal values. In contrast to a common deficient variant (ZZ or MZ), the subject tissues do not contain periodic acid-schiff positive inclusion bodies. The \"normal\" pattern obtained after antigen-antibody crossed electrophoresis, would be in favour of a deficient anomaly hereditarily transmitted.</p>","PeriodicalId":75916,"journal":{"name":"Humangenetik","volume":"30 2","pages":"121-5"},"PeriodicalIF":0.0,"publicationDate":"1975-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/BF00291944","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"12261287","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 5
Human triploid cell strain. Phenotype on cellular level. 人三倍体细胞株。细胞水平上的表型。
Humangenetik Pub Date : 1975-11-06 DOI: 10.1007/BF00291945
A M Kuliev, V I Kukharenko, K N Grinberg, A T Mikhailov, A D Tamarkina
{"title":"Human triploid cell strain. Phenotype on cellular level.","authors":"A M Kuliev,&nbsp;V I Kukharenko,&nbsp;K N Grinberg,&nbsp;A T Mikhailov,&nbsp;A D Tamarkina","doi":"10.1007/BF00291945","DOIUrl":"https://doi.org/10.1007/BF00291945","url":null,"abstract":"<p><p>The complex investigation of the bilogical properties of the triploid cell strain derived from a spontaneous abortus was carried out. Cytomorphological, autoradiographic, cytochemical, biochemical and immunochemical investigation showed that, according to most of the investigated properties, triploid cells did not differ from normal diploid cells. The cells had normal form, were well orientated, revealed expressed fibrillar apparatus and viability in the culture during 15--17 passages. The decrease of the alkaline phosphatase level, increase of acid phosphatase, lactate and malatdehydrogenase and greater nuclei area were the essential differences from the control. The cells had normal mitotic cycle parameters and the antigenic spectrum was practically identical to the normal cells.</p>","PeriodicalId":75916,"journal":{"name":"Humangenetik","volume":"30 2","pages":"127-34"},"PeriodicalIF":0.0,"publicationDate":"1975-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/BF00291945","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"12371012","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 4
The metaphase chromosome ultrastructure. II. Helical organization of the basic chromosome fiber as revealed by acute angle metal deposition. 中期染色体超微结构。2锐角金属沉积显示染色体基本纤维呈螺旋状组织。
Humangenetik Pub Date : 1975-11-06 DOI: 10.1007/BF00291948
D A Filip, C Gilly, C Mouriquand
{"title":"The metaphase chromosome ultrastructure. II. Helical organization of the basic chromosome fiber as revealed by acute angle metal deposition.","authors":"D A Filip,&nbsp;C Gilly,&nbsp;C Mouriquand","doi":"10.1007/BF00291948","DOIUrl":"https://doi.org/10.1007/BF00291948","url":null,"abstract":"<p><p>The acute angle metal depositon technique, discloses a helical chromosome fiber substructure. The microdensitometric analysis of the fiber parameters shows that a fibril 152 A in diameter coils to form the basic chromosome fiber 295 A in diameter with a pitch of 247 A. These figures should be corrected because of the thickening due to metal deposition, the real dimensions would be closer to 112 A for the fibril diameter and 255 A for fiber diameter. The real pitch value is probably somewhat smaller than 247 A (approximatively 200 A) as the values were obtained by analysing slightly stretched fibers. These results support the helical model of the chromosomes fiber organization and show that, most probably, the metaphase chromosome fiber as seen in electron microscopy is the second order of helical packing.</p>","PeriodicalId":75916,"journal":{"name":"Humangenetik","volume":"30 2","pages":"155-65"},"PeriodicalIF":0.0,"publicationDate":"1975-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/BF00291948","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"12370787","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
The human leulocyte test system. VII. Further investigations concerning micronucleus-derived premature chromosome condensation. 人类白细胞检测系统。7微核源性染色体过早凝聚的进一步研究。
Humangenetik Pub Date : 1975-11-06 DOI: 10.1007/BF00291947
G Obe, B Beek
{"title":"The human leulocyte test system. VII. Further investigations concerning micronucleus-derived premature chromosome condensation.","authors":"G Obe,&nbsp;B Beek","doi":"10.1007/BF00291947","DOIUrl":"https://doi.org/10.1007/BF00291947","url":null,"abstract":"<p><p>Premature chromosome condensation (PCC) from X-ray induced micronuclei shows a dose-effect relationship in human leukocytes in vitro. Preparations at different culture times without colcemide treatment reveal complex variations of the frequencies of micronuclei and PCC correlated with the fixation time. The positions of PCC patches in the metaphase plate and the frequencies of different PCC types (S and G2) ar independent on the X-ray dose. The latter indicates that the slowing down of the micronuclei in the cell cycle, which is the reason for the formation of PCC, may be an outcome rather of a regulatory phenomenon than of an unspecific physiological damage of the chromatin included in the micronuclei. This is especially evident from labeling experiments with tritiated thymidine, showing that the extent of asynchrony between main nuclei and micronuclei is independent on the X-ray dose. Labeling experiments with tritiated uridine reveal a X-ray dose dependent suppression of RNA synthesis in cells with main nuclei and micronuclei. THE S-phase nature of \"pulverized\" PCC patches could be verified by incorporation of tritiated thymidine in aound 50%. Staining of centromeric heterochromatin in micronuclei reveal a frequency of micronuclei with centromeric heterochromatin resembling the frequency of G2-phase PCC found in mitoses.</p>","PeriodicalId":75916,"journal":{"name":"Humangenetik","volume":"30 2","pages":"143-54"},"PeriodicalIF":0.0,"publicationDate":"1975-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/BF00291947","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"12370782","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 38
Oxidase (donor: oxygen oxidoreductase) activity by peroxidase and alpha2-macroglobulin interaction. 氧化酶(供体:氧氧化还原酶)活性受过氧化物酶和α 2-巨球蛋白相互作用的影响。
Humangenetik Pub Date : 1975-11-06 DOI: 10.1007/BF00291951
J Schmitt, H Ritter, U Friedrichson
{"title":"Oxidase (donor: oxygen oxidoreductase) activity by peroxidase and alpha2-macroglobulin interaction.","authors":"J Schmitt,&nbsp;H Ritter,&nbsp;U Friedrichson","doi":"10.1007/BF00291951","DOIUrl":"https://doi.org/10.1007/BF00291951","url":null,"abstract":"<p><p>The interaction between peroxidase (donor: hydrogenperoxide oxidoreductase, EC 1.11.1.7) and human alpha2-macroglobulin has been studied by employing starch gel electrophoresis and spectrophotometric assay analysis.</p>","PeriodicalId":75916,"journal":{"name":"Humangenetik","volume":"30 2","pages":"179-80"},"PeriodicalIF":0.0,"publicationDate":"1975-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/BF00291951","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11275773","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A 6p trisomy detected in a family with a "giant satellite". 在一个拥有“巨型卫星”的家庭中发现了6p三体。
Humangenetik Pub Date : 1975-10-20 DOI: 10.1007/BF00273632
H Chiyo, Y Kuroki, I Matsui, K Yanagida, Y Nakagome
{"title":"A 6p trisomy detected in a family with a \"giant satellite\".","authors":"H Chiyo,&nbsp;Y Kuroki,&nbsp;I Matsui,&nbsp;K Yanagida,&nbsp;Y Nakagome","doi":"10.1007/BF00273632","DOIUrl":"https://doi.org/10.1007/BF00273632","url":null,"abstract":"<p><p>A very large (giant) satellite was observed on one of the D-group chromosomes of a malformed and mentally retarded infant and her father. Detailed cytogenetic studies revealed that the giant satellite represented, in fact, a der(15) chromosome of translocation t(6;15)(p21;p12 or 13). The proposita was trisomic for a part of 6p(6pter leads to 6p21). The father was a balanced carrier, however, the deletion of the short arm of a No. 6 was hard to detect in routine karyotype analysis.</p>","PeriodicalId":75916,"journal":{"name":"Humangenetik","volume":"30 1","pages":"63-7"},"PeriodicalIF":0.0,"publicationDate":"1975-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/BF00273632","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"12360186","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 17
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