ISSN:1424-8581    

DOI:10.1159/000133907

出版商:S. Karger AG    

年代:1995

数据来源: Karger

ISSN:1424-8581    

DOI:10.1159/000133908

出版商:S. Karger AG    

年代:1995

数据来源: Karger

ISSN:1424-8581    

DOI:10.1159/000133909

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

The nuclear factor of activated T cells (NFAT) is a transcription factor complex involved in the activation of cytokines and cell surface molecules associated with coordinating the actions of different cells required for an immune response. Two different genes have recently been cloned that encode proteins capable of functioning as the pre-existing (p) and cytosolic (c) component of the NFAT transcription complex, NFATc of human and NFATp of murine origin (Northrop et al., 1994; McCaffrey et al., 1993b). We report here the partial cDNA cloning of the murine homolog of NFATc and the human homolog of NFATp, and the chromosomal localization of both genes in both species to conserved syntenic regions. Through the use of mapping panels of human × Chinese hamster and mouse × rodent cells hybrids, the NFATc genes were mapped to human and mouse chromosomes 18. By analyzing a chromosome 18 radiation hybrid panel, the human NFATc gene was localized to the q terminus, closely linked to STS marker D18S497. The murine Nfatc gene was sublocalized to chromosome band 18E4 by FISH. The NFATp genes were mapped by somatic cell hybrid analysis to human chromosome 20 and mouse chromosome 2. Human NFATp was assigned to chromosome region 20ql3.2→ql3.3 by FISH. Based on the conserved syntenic region on human chromosome 20 and mouse chromosome 2, murine Nfatp is predicted to reside in the vicinity of a mutant locus wasted. Homozygous wst/wst mice display a phenotype reminiscent of severe combined immune deficiency or ataxia telangiectasia, disorders that could therefore be considered candidates for NFATp mutati

ISSN:1424-8581    

DOI:10.1159/000133910

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

Using fibulin-1 cDNA probes, we performed fluorescence in situ hybridization to map the human chromosomal location of the gene encoding the extracellular matrix and blood glycoprotein, fibulin-1 (FBLN1). The gene for fibulin-1 was mapped to a single site on the long arm of human chromosome 22 (22ql3.3). The assignment of the chromosomal map position for the fibulin-1 gene will aid in the evaluation of its potential roles in human connective tissue and blood diseases.

ISSN:1424-8581    

DOI:10.1159/000133911

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

Pulsed-field gel electrophoresis has been used to construct a long-range restriction map spanning more than 900 kb in the q22.1 region of human chromosome 16. The gene cluster containing the lecithinxholesterol acyl transferase (LCAT) gene is located less than 480 kb from the anonymous DNA marker D16S124 in this map. The results suggest three putative CpG islands within 125 kb, in addition to the island previously shown to be located within the gene cluster. This implies a clustering of both genes and CpG islands in this chromosomal region.

ISSN:1424-8581    

DOI:10.1159/000133912

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

The recent development of mouse chromosome painting probes for fluorescence in situ hybridization has extended the use of this common laboratory mammal in cytogenetics. We now report the development of additional painting probes by degenerate-oligonucleotide-primed PCR on chromosomes from mouse lung fibroblast cultures, each homozygous for a single Robertsonian translocation chromosome. These probes are for Rb(1.2), Rb(1.3), Rb(4.6), and Rb(6.7). Probes were also made for the sex chromosomes by isolating shoulders from larger peaks (X) or small, clearly resolved peaks (Y) in the flow karyotype. Combinations of probes were used to paint four chromosomes simultaneously in a single color. Multicolor painting was achieved with a biotinylated Rb( 1.2) probe and a digoxigenin-labeled Rb(2.8) probe. Each of the three different homologous pairs was uniquely colored by avidin-Texas Red, anti-digoxigenin-FITC, or both simultaneously. These results extend the usefulness of the mouse as a model for understanding adverse environmental exposures and genetic diseases in humans.

ISSN:1424-8581    

DOI:10.1159/000133913

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

Aneuploidy detection for chromosome 21 by fluorescence in situ hybridization (FISH) to inteφhase nuclei using a probe specific for the alphoid DNA sequences D21Z1/D13Z1 should be avoided. An extreme heteromorphism, resulting in misdiagnosis if inteφhase FISH is the only test employed, may be far more frequent (4/101) than expecte

ISSN:1424-8581    

DOI:10.1159/000133914

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

Using single- and double-color fluorescence in situ hybridization (FISH), 11 probes from the human chromosome region 5q2→q3 are mapped. The following map order is proposed, from proximal to distal: 5q21.3→q22: 15A6 (D5S136), YN5.64, CRI-L372 (D5S49), YN5.48 (D5S81); 5q22: EF5.44 (D5S135), APC; 5q22→q23.1: CI5.23, L5.69 (D5S137), CRI-T39 (D5S64), MC5.61 (D5S84); 5q31.1→ q31.2:CRI-L1265

ISSN:1424-8581    

DOI:10.1159/000133915

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

The advent of chromosome painting has brought the realization that structural aberrations can be far more complicated than previously imagined. Various investigators have devised their own nomenclature systems to deal with this difficulty, with the result that the terminology has become inconsistent and confusing. Recently, an international group of cytogeneticists experienced in chromosome painting gathered to address this issue. Results of the meeting are presented in this report, which provides a nomenclature system capable of describing chromosome aberrations that occur between painted and unpainted chromosomes, as well as aberrations involving only painted chromosomes. The nomenclature is flexible enough to describe accurately even the most extensively rearranged chromosomes. As a consequence of this flexibility, the scheme upon which the nomenclature is based differs substantially from other systems of aberration classification. We call this system the Protocol for Aberration Identification and Nomenclature Terminology (PAINT).

ISSN:1424-8581    

DOI:10.1159/000133916

出版商:S. Karger AG    

年代:1995

数据来源: Karger