Physical localization of 70 polymorphic markers to human chromosome 5 by fluorescence in situ hybridization

Neuman, Wilma L.; Westbrook, Carol A.; Dixon, Michael J.; Espinosa, R.; Patel, Yogesh; Nakamura, Y.; Weiffenbach, Barbara; Beau, Michelle M. Le

doi:10.1159/000133477

Cited by 5 publications

(11 citation statements)

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“…The most common proximal breakpoints were q13 (59 patients) and qiS (25 patients). Ninety patients had a distal breakpoint in 5q33.3; less often, distal breakpoints were observed in 5q31 (10 patients), 5q32 ( (14). These clones were assigned to 5q by genetic linkage analysis (CEPH version 4); however, the chromosomal location of only 2 of these clones had been determined by physical mapping techniques.…”

Section: Resultsmentioning

confidence: 99%

“…These clones were assigned to 5q by genetic linkage analysis (CEPH version 4); however, the chromosomal location of only 2 of these clones had been determined by physical mapping techniques. The results of these previous studies allowed us to localize all of these probes to discrete chromosomal band(s) and, more importantly, to identify 11 probes that were located within 5q31 (14). Nine ofthese probes were selected for additional studies (Table 1).…”

Section: Resultsmentioning

confidence: 99%

“…In all cases, hybridization of the EGRI probe was observed on the cytogenetically normal homolog, suggesting that homozygous deletion of EGRI had not occurred. These results are important because they identify proximal and distal markers that flank the critical region as well as a 14 (Fig. 3).…”

Section: Resultsmentioning

confidence: 99%

“…Clinically, this disorder, termed the "5q-syndrome," is characterized by refractory anemia (RA). These patients having a del(Sq) as the sole abnormality tend to have a relatively mild course that usually does not progress to acute leukemia (9 (14) and somatic cell hybrid mapping (15). Of these, 10 (18).…”

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Cytogenetic and molecular delineation of the smallest commonly deleted region of chromosome 5 in malignant myeloid diseases.

Beau

Espinosa

Neuman

et al. 1993

Proc. Natl. Acad. Sci. U.S.A.

305

284

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Loss of a whole chromosome S or a deletion of its long arm (5q) is a recurring abnormality in malignant myeloid neoplasms. To determine the location of genes on Sq that may be involved in leukemogenesis, we examined the deleted chromosome 5 homologs in a series of 135 patients with malignant myeloid diseases. By comparing the breakpoints, we identified a small segment of 5q, consisting of band 5q31, that was deleted in each patient. This segment has been termed the critical region. Distal Sq contains a number of genes encoding growth factors, hormone receptors, and proteins involved in signal transduction or transcriptional regulation. These include several genes that are good candidates for a tumorsuppressor gene, as well as the genes encoding five hematopoietic growth factors (CSF2, IL3, IL4, IL5, and IL9). By using fluorescence in situ hybridization, we have refrned the localization of these genes to 5q31.1 and have determined the order of these genes and of other markers within 5q31. By hybridizing probes to metaphase cells with overlapping deletions involving 5q31, we have narrowed the critical region to a smail segment of 5q31 containing the EGRI gene. The five hematopoietic growth factor genes and seven other genes are excluded from this region. The EGRI gene was not deleted in nine other patients with acute myeloid leukemia who did not have abnormalities of chromosome 5. By physical mapping, the minimum size of the critical region was estimated to be 2.8 megabases. This cytogenetic map of 5q31, together with the molecular characterization of the critical region, will facilitate the identification of a putative tumor-suppressor gene in this band.Recurring chromosomal rearrangements are characteristic of human malignant diseases, particularly the leukemias and lymphomas (1) (93%o) had a clonal chromosomal abnormality and 97 (75%) had loss or deletion of chromosome 5 and/or 7. Among these 97 patients, 21 had loss of chromosome 5, 26 had a del(5q), 8 had loss of 5q following unbalanced translocations, 51 had loss of chromosome 7, 11 had a del(7q), and 12 had loss of 7q as a result of an unbalanced translocation. Thirty-one patients had abnormalities of both chromosomes 5 and 7. Overall, 55 patients (43%) had abnormalities of chromosome 5. A del(5q) was the most common structural aberration in our series.In addition to t-MDS/t-AML, a -5/del(Sq) has also been observed in the malignant cells of 10%o ofpatients with AML de novo and in 15% ofpatients who have MDS arising de novo (8). Many of these patients have had significant occupational exposure to potential environmental carcinogens, suggesting that abnormalities of chromosome 5 or 7 may be a marker of mutagen-induced leukemia. A distinct clinical syndrome associated with a del(5q) is seen in a subset ofpatients with MDS de novo. Clinically, this disorder, termed the "5q-syndrome," is characterized by refractory anemia (RA). These patients having a del(Sq) as the sole abnormality tend to have a relatively mild course that usually does not progress to ...

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

mentioning

confidence: 99%

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Cytogenetic and molecular delineation of the smallest commonly deleted region of chromosome 5 in malignant myeloid diseases.

Beau

Espinosa

Neuman

et al. 1993

Proc. Natl. Acad. Sci. U.S.A.

305

284

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“…somatic cell hybrid mapping and FISH analysis of normal chro mosomes reported elsewhere (Le Beau et al, 1991;Neuman et al, 1993). All of the cosmids had been localized to band 5q31 except for probe 6, MC5.71, which is immediately adjacent, at the border of band 5q23.3.…”

Section: Physical Order Determined By Fluorescence In Situ Hybridizationmentioning

confidence: 87%

Physical and genetic map of 5q31: use of fluorescence in situ hybridization data to identify errors in the CEPH database

Westbrook

Beau

Neuman

et al. 1994

Cytogenet Genome Res

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Chromosome 5, band q31, contains the genes responsible for a number of interesting genetic and malignant diseases, as well as many cloned genes. To prepare a high-resolution map of this region, eight anonymous DNA markers were mapped by combining genetic data derived from linkage analysis, with physical data obtained using two-color fluorescent in situ hybridization (FISH). Probe order was determined by FISH on metaphase cells, supplemented with interphase analysis, while genetic distance and likely order were determined by multipoint linkage analysis using genotype data from Centre d’Etude de Polymorphisme Humain (CEPH) pedigrees. Discrepancies between the genetic and physical maps suggested that there was a high rate of genotyping errors in the CEPH data for these markers, and prompted a statistical analysis to identify these errors. By assuming a known physical order (as determined by FISH) it was possible to identify markers which had the greatest degree of error. The average typing error was estimated at 1.8%, but several markers had much higher error rates; a 14% error rate was predicted for one locus, which was subsequently confirmed by retyping. The analysis led to the preparation of a revised map spanning 24.5 cM of 5q31. This study illustrates the power of FISH to determine physical order over a wide genomic distance, and demonstrates how order can be used as an adjunct to linkage analysis, particularly in the identification of genotyping errors.

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Physical and linkage mapping of the bovine genome with cosmids

Hawkins

Toldo²,

Bishop

et al. 1995

Mammalian Genome

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We have initiated a mapping strategy using cosmid clones to chromosomally anchor a high-resolution bovine genetic linkage map. Ten cosmids containing microsatellites were assigned to bovine chromosomes by fluorescence in situ suppression hybridization (FISH). Four cosmid clones, three of which contain an informative microsatellite, were assigned to autosomes 5, 13, 24, and 28. The assignment to autosome 13 anchors bovine syntenic group U11. Two additional cosmid clones, each containing informative microsatellites, are assigned to autosomes 9 and 29, anchoring bovine linkage groups U2 and U8, respectively. Four cosmid clones, three of which contain informative microsatellites, also provide the first assignment to autosome 25, anchoring bovine syntenic group U7 and orienting the corresponding linkage group relative to the centromere.

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Physical localization of 70 polymorphic markers to human chromosome 5 by fluorescence in situ hybridization

Cited by 5 publications

References 1 publication

Cytogenetic and molecular delineation of the smallest commonly deleted region of chromosome 5 in malignant myeloid diseases.

Cytogenetic and molecular delineation of the smallest commonly deleted region of chromosome 5 in malignant myeloid diseases.

Physical and genetic map of 5q31: use of fluorescence in situ hybridization data to identify errors in the CEPH database

Physical and linkage mapping of the bovine genome with cosmids

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