摘要:

The meiotic segregation of chromosomes was analysed in three reciprocal translocation carriers, using FISH on interphase spermatozoa. The segregation pattern was first studied in 27,844 spermatozoa from two siblings carrying the reciprocal translocation t(6;11)(q14;p14). Three centromeric probes, specific for chromosomes 6, 11 and 1, were simultaneously hybridized so that all centric fragments as well as the ploidy of each cell could be determined by three colour FISH. For both subjects, the respective frequencies of alternate/adjacent 1, adjacent 2, 3:1 and 4:0 segregation modes were 88%, 9%, 3%and < l%. In another reciprocal translocation t(2; 14)(p23.1;q31), a two colour FISH analysis was performed on 4,610 spermatozoa, using a chromosome 2 centromeric probe and a YAC probe located on the centric fragment of chromosome 14. Frequencies of alternate/adjacent 1, adjacent 2, and 3:1 segregations were 89%, 5.2%, and 5.8% respectively. The segregation of chromosomes X, Y and 1 were also analyzed with three colour FISH on the spermatozoa from all three translocation carriers, in order to detect an interchromosomal effect. Aneuploidy rates for the X and Y chromosomes were found to be in the same range in the three translocation carriers and control donors, but disomy 1 rates were slightly increased in the translocation carriers.

ISSN:1424-8581    

DOI:10.1159/000134118

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

The human immune interferon gamma gene (IFNG) was localized to chromosome band 12q14 by fluorescence in situ hybridization. This correction of a previous localization resolves the discrepancy between the syntenic maps of human chromosome 12 and mouse chromosome 10 and facilitates linkage analysis and identification of gene interactions near this region of chromosome 12 as well as further genetic studies of interferon-gamma immune-associated diseases.

ISSN:1424-8581    

DOI:10.1159/000134119

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

A cosmid clone containing the uteroferrin gene (ACP5) was selected from a cosmid library of swine genomic fragments by colony hybridization using uteroferrin cDNA as a probe. The genomic fragment thus cloned was examined by Southern blot and sequence analysis which demonstrated that it contained at least a part of the uteroferrin gene. The cosmid clone DNA was labeled with biotin, and used as a probe for in situ hybridization to swine chromosomes. Hybridization was visualized by the FITC-labeled streptavidin/biotinylated anti-streptavidin system together with R-banding of chromosomes. The hybridization signals revealed that the uteroferrin gene (ACP5) is located on swine chromosome 2q12→q2

ISSN:1424-8581    

DOI:10.1159/000134120

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

Using fluorescence in situ hybridization, we localized the rat homolog of the von Hippel-Lindau gene (Vhl) to rat chromosome band 4q41.3→q42.1. We also mapped the gene encoding the plasma membrane Ca++-transporting ATPase iso-form 2 (Atp2b2) to the same chromosome subregion. These two genes together with Raf1 appear to be members of a large syntenic gene cluster that maps to human chromosome bands 3p25→p26, mouse chromosome bands 6 C3→E, and rat chromosome bands 4q41→q42. Cytogenetic analysis of NRK 52E cells derived from immortalized normal rat kidney epithelial cells revealed an inverted duplication of the region containing this gene

ISSN:1424-8581    

DOI:10.1159/000134121

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

A recent study using comparative mapping analysis suggests that the proximal segment of mouse chromosome 19 contains the mouse homologs of the human multiple endocrine neoplasia type 1 (MENl) flanking markers proximal to the locus. We have recently shown that phospholipase C-β3 (PLCB3) is a candidate gene for the MENl syndrome. In the present investigation we used fluorescence in situ hybridization with a genomic DNA clone for mouse Plcb3, and mapped the locus to chromosome region 19B. This is in agreement with the comparative mapping of the MENl flanking markers in mouse

ISSN:1424-8581    

DOI:10.1159/000134122

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

By two-dimensional (2-D) DNA typing several hundred genomic loci can be analysed simultaneously in a two-dimensional pattern as spots detected by micro- or minisatellite core probes. Many of these loci display DNA sequence polymorphisms, and we have examined whether it is possible to extract genetic information from the rather complex but potentially very informative 2-D DNA typing patterns. To do so, the segregation of 9 spots detected by the microsatellite core probe (CAC) n was followed in a large CEPH pedigree, and by linkage analysis it was possible to obtain chromosomal assignments of the corresponding (CAC)n loci in all cases except one. Furthermore, a regional, physical localization of these loci emerged from analysis of the existing genetic and physical localization data of DNA markers flanking the (CAC)n loci. We have hereby obtained evidence that the spots detected by the microsatellite core probe (CAC)n segregate in a Mendelian manner and that it is possible to reliably score the segregation of single spots within a family. These results indicate that the large amount of potential information inherent in 2-D DNA typing may be used as a genetic marker system; an important prerequisite for its application as a genome scanning method, e.g. in detection of genomic alterations in cancer and in mapping of genetic traits.

ISSN:1424-8581    

DOI:10.1159/000134123

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

Carbamyl Phosphate Synthetase I (CPSI) (EC 6.3.4.16) is a highly conserved mitochondrial enzyme catalyzing the first committed step of waste nitrogen metabolism in the urea cycle. Using FISH for physical mapping and CEPH families for linkage analysis, we mapped the CPSI gene (CPS1) to 2q34→q35, reassigning it from 2p where it was originally mappe

ISSN:1424-8581    

DOI:10.1159/000134124

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

We have constructed a physical map of a 4.6-cM region of human chromosome band 12p13.3 that contains a translocation breakpoint from a mesothelioma with a t(X;12)(q22;p13). The map contains a contig of 22 yeast artificial chromosomes (YACs), onto which we have placed 18 sequence tagged site (STS) markers, including seven genes: D12S370, FGF6, KCNA1, KCNA5, KCNA6, NTF3, and VWF. A second YAC contig, comprised of 22 YAC clones, was located distal to the mesothelioma breakpoint and contained 12 STS markers, including four genes (CACNL1A1, D12S380E, D12S381E, and D12S382E). Based on STS content and fluorescence in situ hybridization experiments, two stable, nonchimeric YAC clones were found that span the mesothelioma breakpoint. A long-range restriction map of an 800-kb region was constructed and used to refine the mesothelioma breakpoint to a region of approximately 100 kb, flanked by the potassium channel genes KCNA1 and KCNA5. The latter was confirmed by direct visual hybridization (DIRVISH) experiments, using cosmids isolated for markers flanking the breakpoint as probes.

ISSN:1424-8581    

DOI:10.1159/000134125

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

We have tested a new approach to comparative genomic hybridization (CGH) analysis using digital ratio images and eigenanalysis, which allows the recognition of consistent patterns along the chromosomes and discards random (background noise) patterns. We have performed test experiments using genomic DNAs from a patient with a duplication, another with a deletion of a chromosome segment, and a prostate cancer biopsy. Image ratio analysis was performed, and ratio images of the relevant chromosome were subjected to eigenanalysis. The results showed a high-contrast enhancement of the regions corresponding to the unbalanced genomic segment, with clearly defined limits between normal and abnormal fluorescence ratios. The combination of digital ratio images and eigenanalysis allowed the precise mapping of unbalanced regions consistent with other methods of analysis. Because there is no limit to the number of chromosomes that can be analyzed at any one time, the method has the potential of increasing the sensitivity of CGH by reducing the noise component.

ISSN:1424-8581    

DOI:10.1159/000134126

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

A t(X;1)(p11.2;q21.2) has been reported in cases of papillary renal cell tumors arising in males. In this study two cell lines derived from this tumor type have been used to indicate the breakpoint region on the X chromosome. Both cell lines have the translocation in addition to other rearrangements and one is derived from the first female case to be reported with the t(X;1)(p11.2;q21.2). Fluorescence in situ hybridization (FISH) has been used to position YACs belonging to contigs in the Xp11.2 region relative to the breakpoint. When considered together with detailed mapping information from the Xp11.2 region the position of the breakpoint in both cell lines was suggested as follows: Xpter→Xp11.23 – OATL1 – GATA1 – WAS – TFE3 – SYP – t(X;1) – DXS255 – CLCN5 – DXS146 – OATL2 – Xp11.22→Xcen. The breakpoint was determined to lie in an uncloned region between SYP and a YAC called FTDM/1 which extends 1 Mb distal to DXS255. These results are contrary to the conclusion from previous FISH studies that the breakpoint was near the OATL2 locus, but are consistent with, and considerably refine, the position that had been establis

ISSN:1424-8581    

DOI:10.1159/000134127

出版商:S. Karger AG    

年代:1995

数据来源: Karger