Report of the committee on the genetic constitution of chromosome 13

Bowcock, Anne M.; Taggart, R T; Ward, Teresa R.

doi:10.1159/000133009

Cited by 5 publications

(2 citation statements)

References 15 publications

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“…Distal chromosome 13q is, at present, a region of the genome to which even few anonymous markers have been assigned, because the major mapping efforts on 13 have been concentrated in the more proximal bands near the genes for retinoblastoma and Wilson disease. Somatic cell hybrid cell lines containing 13q deletions are being developed by our group and by others [Bowcock and Taggert, 1991;Cowell and Mitchell, 19891. In combination with in situ hybridization and genetic mapping, these will allow assignment of DNA markers to the distal region of 13. By using molecular markers it will be possible to further define breakpoints in those 13q deletion cases from which cell lines are available.…”

Section: Discussionmentioning

confidence: 99%

Preliminary definition of a “critical region” of chromosome 13 in q32: Report of 14 cases with 13q deletions and review of the literature

Brown¹,

Gersen²,

et al. 1993

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We report on 14 patients with partial deletions of chromosome 13q. These patients exhibit a wide spectrum of phenotypes. Deletions limited to proximal bands q13-q31 are associated with growth retardation but not with major malformations. We review the literature since 1975 and summarize 13q deletion cases which have a phenotype involving one or more major malformations and mental retardation. Analysis of the breakpoints of these cases, as well as those reported by us, supports the hypothesis that only deletions involving at least part of band q32 are associated with major malformations and digital abnormalities. Patients with more distal deletions have severe mental retardation but do not have major malformations or growth retardation. A group of patients in whom the breakpoint is stated to be within q32 has had an intermediate phenotype. This suggests that it may be possible to define subregions within q32 whose deletion is associated with particular developmental defects.

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Section: Discussionmentioning

confidence: 99%

Preliminary definition of a “critical region” of chromosome 13 in q32: Report of 14 cases with 13q deletions and review of the literature

Brown¹,

Gersen²,

et al. 1993

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“…1993b). Documentation for the human cytogenetic and genetic map localizations is provided by Bowcock and Taggart (1991), the NIH/CEPH Collaborative Mapping Group (1992), and Buetow et al (1994). D13Z1 is a centromeric marker that was used to anchor the genetic map.…”

Section: Genementioning

confidence: 99%

Homologs of genes and anonymous loci on human Chromosome 13 map to mouse Chromosomes 8 and 14

et al. 1995

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To enhance the comparative map for human Chromosome (Chr) 13, we identified clones for human genes and anonymous loci that cross-hybridized with their mouse homologs and then used linkage crosses for mapping. Of the clones for four genes and twelve anonymous loci tested, cross-hybridization was found for six, COL4A1, COL4A2, D13S26, D13S35, F10, and PCCA. Strong evidence for homology was found for COL4A1, COL4A2, D13S26, D13S35, and F10, but only circumstantial homology evidence was obtained for PCCA. To genetically map these mouse homologs (Cf10, Col4a1, Col4a2, D14H13S26, D8H13S35, and Pcca-rs), we used interspecific and intersubspecific mapping panels. D14H13S26 and Pcca-rs were located on the distal portion of mouse Chr 14 extending by approximately 30 cM the conserved linkage between human Chr 13 and mouse Chr 14, assuming that Pcca-rs is the mouse homolog of PCCA. By contrast, Cf10, Col4a1, Col4a2, and D8H13S35 mapped near the centromere of mouse Chr 8, defining a new conserved linkage. Finally, we identified either a closely linked sequence related to Col4a2, or a recombination hot-spot between Col4a1 and Col4a2 that has been conserved in humans and mice.

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Quantitation and mapping of integrated human papillomavirus on human metaphase chromosomes using a fluorescence microscope imaging system

et al. 1992

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Integrated human papillomavirus type 16 (HPV-16) DNA was directly visualized on metaphase chromosomes in the two human cervical carcinoma cell lines SiHa and CaSki by fluorescence in situ hybridization with a biotinylated DNA probe (7.9 kb). The fluorescence intensities of hybridization signals from single copies and dispersed clusters of integrated HPV-16 DNA were quantified using a microscope equipped with a cooled-CCD camera that was interfaced to an image processor and host computer. Hybridization signals were localized on chromosomes using separate, registered images of 4',6-diamidino-2-phenylindole (DAPI) or propidium iodide stained metaphase chromosome spreads. In both SiHa and CaSki spreads, a single fluorescein signal was observed on one or both chromatids of chromosome 13, which was identified by simultaneous hybridization with a biotinylated centromere probe specific for chromosomes 13 and 21. Ratios of the dis- Key terms: Microscopy, fluorescence/image processing, computer-assistedhucleic acid hybridizatiodDNA probes, HPV The technique of in situ hybridization allows one to detect, localize, and quantify unique nucleic acid sequences within single cells and upon individual chromosomes. Radioactive probes and autoradiographic techniques have been required for quantitation of target sequence copy number and are often necessary in order to detect specific nucleic acid sequences present in low abundance (4,12). However, recent advances have been made in the labeling and detection of hybridized nonradioactive probes; thus it is now possible to detect specific nucleic acid sequences only a few kilobases in length on metaphase chromosomes (3,10,16,17,26,30). In physical mapping studies, fluorescence detection of hybridization signals on chromosomes provides better microscopic spatial resolution and greater precision than microautoradiography (6,18,20). In addition, fluorescence detection of nonra-

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Report of the committee on the genetic constitution of chromosome 13

Cited by 5 publications

References 15 publications

Preliminary definition of a “critical region” of chromosome 13 in q32: Report of 14 cases with 13q deletions and review of the literature

Preliminary definition of a “critical region” of chromosome 13 in q32: Report of 14 cases with 13q deletions and review of the literature

Homologs of genes and anonymous loci on human Chromosome 13 map to mouse Chromosomes 8 and 14

Quantitation and mapping of integrated human papillomavirus on human metaphase chromosomes using a fluorescence microscope imaging system

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