ISSN:1424-8581    

DOI:10.1159/000133310

出版商:S. Karger AG    

年代:1992

数据来源: Karger

ISSN:1424-8581    

DOI:10.1159/000133311

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

The meiotic prophase behavior of three human reciprocal autosomal translocations is presented. Each translocation was ascertained among men attending an infertility clinic. Two involved chromosomes 3 and 5, with breakpoints in different places. Quadrivalents were seen in every cell. The third translocation was a rare t(11 q;15q) rearrangement in a 45-chromosome individual with tertiary monosomy. The long product of the translocation was retained in the karyotype over two generations of the family, the short product having been lost. At meiotic prophase, a trivalent was seen in every cell; in 60% of the nuclei, the short arm of the trivalent was closely associated with the XY bivalent. The transmission and phenotypic effects of tertiary monosomy in man and the mouse are discussed.

ISSN:1424-8581    

DOI:10.1159/000133312

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

Banding patterns induced by selective DNA extraction with the restriction endonucleases PleI and TfiI reveal the distribution of human satellite DNAs within the major heterochromatic blocks on human metaphase chromosomes. PleI and TfiI are able to discriminate HinfI target sites, depending on the nature of the central base. PleI digestion specifically reveals regions, within major C-bands, that include the major sites of satellite II DNA and permits more precise localization of satellite II domains than does radioactive in situ hybridization. The close correspondence between the cytogenetic results presented here and previously reported molecular data seems to support the idea that the frequency of enzyme target sequences is the main factor in determining the action produced by restriction endonucleases on fixed human chromosomes and that chromatin conformation is not an important factor in limiting enzyme accessibility.

ISSN:1424-8581    

DOI:10.1159/000133313

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

Earlier studies had shown that the expression of the gene coding for one eminent connective tissue proteoglycan, decorin (DCN), is deficient in the fibroblasts of 3 out of 15 Marfan patients (Pulkkinen et al., 1990). To obtain more information on the expression of this gene, various human tissues and cell lines were studied. High mRNA levels of decorin were detected in aorta, lung, skin, kidney, smooth muscle, and placenta, whereas significantly lower mRNA levels were found in the rest of the tissues analyzed. Two sizes of transcripts were observed in all tissues. The two transcripts of decorin most probably do not represent two different genes, since in situ hybridization gave only one strong signal, placing the gene in 12q21→q22. No tissue-specific differences in the two mRNA species of decorin were detected. This is in contrast to the gene of versican, another connective tissue proteoglycan gene, that was analyzed as a control; high expression of a longer transcript of the versican gene was found in brain and smooth muscle, whereas the shorter transcript was predominant in all other tissues studied. DCN was actively transcribed in cultured mesenchymal cells, whereas in cells of endothelial or epithelial origin, the transcription level was undetectable. These tissue- and cell type-specific variations in the expression of DCN may help to explain the complex phenotypic variation typical of individuals with Marfan syndrom

ISSN:1424-8581    

DOI:10.1159/000133314

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

The locus DXS250, which is linked to the Allan-Herndon type of X-linked mental retardation, maps between DXS3 and DXYS1 in a panel of 40 families established by the Centre d’Etude du Polymorphisme Humain, Pari

ISSN:1424-8581    

DOI:10.1159/000133315

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

Oncogenic activation of the MCF.2 cell line-derived transforming sequence gene (MCF2) occurs through substitution of part of its 5’ coding region by unrelated nonsyntenic sequences. Analysis of the MCF2 oncogene locus revealed complex recombination events involving four discontinuous human DNA segments. The upstream replacing sequence, named URS, represents the farthest 5’ portion of the locus. The URS sequence maps to the D15S93 locus on human chromosome 15q15

ISSN:1424-8581    

DOI:10.1159/000133316

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

In situ hybridization was employed to localize a cDNA probe from the human protein-tyrosine phosphatase PTPα/LRP to human metaphase chromosomes. The PTPA gene has been localized to chromosome 20p13

ISSN:1424-8581    

DOI:10.1159/000133317

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

We have previously reported the cloning of a novel cytoplasmic tyrosine kinase, CSK. This tyrosine kinase has been shown to downregulate the tyrosine kinase activity of the c-src oncoprotein through tyrosine phosphorylation of the c-src carboxyl terminus. Cell transformation by src oncoproteins is caused by several oncogenic mechanisms, which interfere with this phosphorylation. The CSK gene could therefore potentially function as an antioncogene. We have here mapped the CSK gene to 15q23→q25 by in situ hybridizatio

ISSN:1424-8581    

DOI:10.1159/000133318

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

A plasmid clone of an 8.2-kb EcoRl genomic fragment of the gene for human mitochondrial acetoacetyl-CoA thiolase (ACAT; E.C.2.3.1.9), containing exon 9 to exon 12, was utilized in a fluorescence in situ hybridization study to assign the ACAT locus to chromosome 11q22.3→q23.

ISSN:1424-8581    

DOI:10.1159/000133319

出版商:S. Karger AG    

年代:1992

数据来源: Karger