Twenty-eight loci form a continuous linkage map of markers for human chromosome 1

O’Connell, P.; Lathrop, G.M.; Nakamura, Y.; Leppert, M.; Ardinger, Robert H.; Murray, Jeff; Lalouel, J.-M.; White, Ray

doi:10.1016/0888-7543(89)90308-x

Cited by 62 publications

(15 citation statements)

References 25 publications

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“…Oncogenes within 1q21-q24, such as SKI and TRK, 23,24 have not so far been studied in context with bladder cancer or tumour invasion, yet the MUC1 gene encoding the transmembrane glycoprotein episialin is also located inside this region. 25 Episialin can promote tumour cell invasion by steric hindrance of E-cadherin-mediated cell-cell adhesion on carcinoma cells. 26 A possible role of episialin for the development of invasive superficial bladder cancer is supported by a study by Walsh et al, 27 who showed increased episialin expression as a characteristic in bladder carcinomas of higher grade and stage.…”

Section: Discussionmentioning

confidence: 99%

Chromosomal aberrations associated with invasion in papillary superficial bladder cancer

et al. 1998

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Non‐invasive and invasive papillary transitional cell carcinomas of stages pTa and pT1 represent the first steps of tumour progression in bladder cancer. In order to analyse different chromosomal alterations of pTa and pT1 superficial bladder cancer, 46 tumour specimens were examined by comparative genomic hybridization (CGH). Losses of chromosome 9 material (11/20) and gains of chromosome 17 material (6/20) were frequently found in pTa tumours. Stage pT1 tumours were characterized by gains of chromosome 1q (14/26; including amplification at 1q21–q24 in three cases) and chromosome 17 material (15/26), as well as by losses of 11p (15/26) and 11q (13/26). Other loci frequently showing losses in pT1 tumours were 2q (9/26), 4q (10/26), 5q (9/26), 8p (10/26), 9p (9/26), 9q (12/26), 10q (8/26), 17p (7/26), and 18q (8/26). Amplifications were detected at 8q21/22, 5q21, 7q36, 10p14, 10p12, 10q25, 12q12, and 12q14. The most striking differences between grade 2 pTa and pT1 tumours were gains of 1q (P<0·01) and losses at 2q (P<0·025), 10q (P<0·05), 11p (P<0·01), 11q (P<0·01), and 17p (P<0·05), as well as the total number of aberrations (pTa grade 2: 4·1; pT1 grade 2: 8·6 aberrations per tumour). These data show characteristic chromosomal aberrations associated with invasion in superficial bladder cancer. © 1998 John Wiley & Sons, Ltd.

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Section: Discussionmentioning

confidence: 99%

Chromosomal aberrations associated with invasion in papillary superficial bladder cancer

et al. 1998

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“…MLAJ-1 (D1S61) detects seven to eight polymorphic alleles ranging in size from 1 to 2 kb with Hinfl, RsaI, and TaqI (O'Connell et al 1989). Figure 4a shows a Southern analysis of TaqI-digested DNAs from pedigree 36 and a control individual hybridized to MLAJ-1.…”

Section: Deletion Of Markers Mapping To Lq23-q25mentioning

confidence: 99%

“…is deleted for the marker pBH516 and confirms that this is a de novo deletion of the maternal chromosome. HBI40 (DIS66) identifies a two-allele polymorphism (A = 8.0kb/B = 4.4kb) with MspI (O'Connell et al 1989). Figure 5a shows the Southern analysis of MspI-digested D N A from pedigree 36, and the somatic cell hybrids 88H5 and 88H4 with the probe HBI40.…”

Section: Deletion Of Markers Mapping To Lq23-q25mentioning

confidence: 99%

“…However, results from five independent linkage studies using a different set of markers have in reference families produced inconsistent results as to marker distances (Bruns and Sherman 1989). One of the deleted markers, CRI-L1054, is not present in the female genetic map we used for our study (O'Connell et al 1989). It has been mapped 2 cM distal to the Duffy locus by Donis-Keller et al (1987).…”

Section: Estimating Deletion Size By Flow Karyotypingmentioning

confidence: 99%

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Molecular characterization of a patient with del(1)(q23–q25)

et al. 1991

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We report a patient (S.T.) with multiple congenital anomalies and developmental delay associated with an interstitial deletion of 1q23-1q25. Molecular analysis of the deletion was performed using DNA markers that map to 1q. Five DNA markers, MLAJ-1 (D1S61), CRI-L1054 (D1S42), HBI40 (D1S66), OS-6 (D1S75), and BH516 (D1S110), were demonstrated to be deleted. Informative polymorphisms demonstrated this to be a de novo deletion of the maternally derived chromosome. Deletion status was determined using restriction fragment length polymorphism (RFLP) analysis supplemented with densitometry in the experiments where RFLP analysis was not fully informative. Deletions were confirmed by Southern analysis using genomic DNA from a somatic cell hybrid retaining the del(1)(q23-q25) chromosome that was constructed from patient S.T. Flow karyotyping confirmed the deletion and estimated that the deletion encompassed 11,000-16,000 kb. The clinical and cytogenetic characteristics of S.T. are compared with those of ten previously described patients with monosomy 1q21-1q25.

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“…Five genetic maps based on families obtained from CEPH were reported (Anderson et at., HGM10;Buetow et al, HGM10;Dracopoli et al, 1988 H7129;DonisKeller et al, HGM10;O 'Connell et al, 1989). Although many genetic markers are unique to each map, distances can be compared between common markers.…”

Section: Gene Ordermentioning

confidence: 99%