A High-Resolution Cytogenetic Map of Human Chromosome 5: Localization of 206 New Cosmid Markers by Direct R-Banding Fluorescence in Situ Hybridization

Takáhashi, Eiichi; Hitomi, Akitsu; Nakamura, Yusuke

doi:10.1006/geno.1993.1310

Cited by 30 publications

(12 citation statements)

References 44 publications

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“…One of the goals of this project was to provide integration of cytogenetic, genetic, and physical maps. STSs were generated from the end sequence of cosmid clones that were localized previously using FISH and direct R-banding (Takahashi et al 1993). These 61 STSs are indicated in Figure 4 with an asterisk, and the previously published cytogenetic assignments of the cosmids from which they were derived are indicated.…”

Section: Figurementioning

confidence: 99%

A Radiation Hybrid Map of Human Chromosome 5 with Integration of Cytogenetic, Genetic, and Transcript Maps

Mcpherson¹,

Apostol

Wagner-McPherson

et al. 1997

Genome Res.

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One of the major goals of the human genome project is to establish a physical map of each human chromosome with a density of sequence-tagged site (STS) markers exceeding one every 100 kb. We report here the generation of a human chromosome 5-specific radiation hybrid (RH) map that includes 556 markers. Of these markers, 132 loci are ordered with a maximum likelihood ratio of >1000:1 compared with the next most likely order. An additional 113 loci were ordered relative to these backbone markers with a maximum likelihood ratio of >10:1 but <1000:1. Together, these 245 loci form an ordered framework map for the chromosome. Using this framework, >300 more markers were localized based on two-point analysis with the ordered set. On average, there are 50 markers in common with the RH map presented here and other chromosome 5 maps included in the current whole genome cytogenetic, genetic, and physical maps. The accuracy of all the maps is evident in that there are no more than two discrepancies between any one of them and these data. All of the maps encompassing chromosome 5 complement each other providing excellent STS coverage with >2200 loci combined. The chromosome 5-specific RH map contains 20% of these independent loci. In addition, our RH map contains STSs derived from clones suitable for fluorescent in situ hybridization, allowing alignment to the cytogenetic map. Together, these maps will assist in the assembly of sequence-ready contigs and will aid in the identification of disease loci on chromosome 5 by positional cloning and positional candidate approaches.[The STS sequences described in this paper have been submitted to dbSTS under accession nos. G15666–G15715 andG16049–G16063. A complete map of human chromosome 5 is available as an on-line supplement at http://www.cshl.org/gr.]

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Section: Figurementioning

confidence: 99%

A Radiation Hybrid Map of Human Chromosome 5 with Integration of Cytogenetic, Genetic, and Transcript Maps

Mcpherson¹,

Apostol

Wagner-McPherson

et al. 1997

Genome Res.

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“…The following DNA probes were used for the analysis of the interstitial chromosome 5q deletion in the proband: cCI5-2, cCI5-9, cCI5-13, cCI5-16, cCI5-18, cCI5-23, cCI5-56, cCI5-116, cCI5-159, cCI5-213, cCI5-222 [Takahashi et al,1993], and cMC411 (5q23 -Ward). Using this set of previously mapped DNA-sequences [Takahashi et al,1993], at least 50 metaphase spreads were examined for each probe. Chromosomes 5 were identified using R-or G-banding before FISH on the same metaphases.…”

Section: Methodsmentioning

confidence: 99%

Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) presenting with features of congenital contractural arachnodactyly

et al. 1998

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Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) in a 30-year-old woman is reported. At 21 weeks of pregnancy, routine fetal ultrasounds showed the presence of apparently isolated bilateral club feet. Fetal karyotyping documented an interstitial deletion of the long arm of chromosome 5: 46,XX,del(5) (q15q31) in all 50 analyzed metaphases. Because such deletion is associated with severe psychomotor retardation, the pregnancy was terminated. Postmortem karyotyping of skin fibroblasts confirmed the presence of this interstitial de novo deletion in all mitoses. The breakpoints on 5q were analyzed by fluorescent in situ hybridization and were localized at 5q15 and q31.1. This case illustrates the importance of fetal karyotyping in cases of isolated club feet. At autopsy, the fetus presented had minor anomalies and contractures of knee and hip joints. These clinical findings could fit the diagnosis of congenital contractural arachnodactyly (CCA) or Beals syndrome. CCA is caused by a defect in the fibrillin-2 (FBN2) gene. This gene was previously mapped on 5q23-31. Our molecular studies of both parents and the fetus, using an intragenic polymorphic GT repeat, showed that the FBN2 gene was deleted in the fetus and that the de novo interstitial deletion occurred on the paternally inherited chromosome 5. Thus, CCA may be caused by a loss of function of the FBN2 gene. Clinical findings in this fetus and those of other described cases with interstitial 5q deletions are reviewed, and similarities with CCA are stressed.

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“…For FISH analysis, 22 cosmid clones were obtained from a library prepared from the somatic cell hybrid HHW141, which contains chromosome 5 as its only human chromosome (Takahashi et al, 1993). These clones were kindly provided by Dr. Katsuyuki Hashimoto (Japanese Cancer Research Resources Bank).…”

Section: Probesmentioning

confidence: 99%

Characterization of a hairy cell leukemia-associated 5q13.3 inversion breakpoint

Merup

Juliusson

et al. 1997

Genes Chromosom. Cancer

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A High-Resolution Cytogenetic Map of Human Chromosome 5: Localization of 206 New Cosmid Markers by Direct R-Banding Fluorescence in Situ Hybridization

Cited by 30 publications

References 44 publications

A Radiation Hybrid Map of Human Chromosome 5 with Integration of Cytogenetic, Genetic, and Transcript Maps

A Radiation Hybrid Map of Human Chromosome 5 with Integration of Cytogenetic, Genetic, and Transcript Maps

Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) presenting with features of congenital contractural arachnodactyly

Characterization of a hairy cell leukemia-associated 5q13.3 inversion breakpoint

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