Report of the DNA committee and catalogues of cloned and mapped genes, markers formatted for PCR and DNA polymorphisms (Part 1 of 27)

Williamson, R.; Bowcock, Anne M.; Kidd, K.K.; Pearson, P.; Schmidtke, J.; Ceverha, P.; Chipperfield, M.; Cooper, David Neil; Coutelle, C.; Hewitt, J.; Klinger, Katherine W.; Langley, Kate; Beckmann, Jacques S.; Tolley, M.; Maidak, B.; Hewett, Duncan R.; Linch, C.; Maslen, G.

doi:10.1159/000133727

Cited by 86 publications

(39 citation statements)

References 2 publications

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“…Six microsatellite loci were assayed for instability. The oligonucleotide primers used to amplify these loci have been published (15)(16)(17)(18). Purified genomic DNA was used with these primers and Taq polymerase to amplify the microsatellite loci.…”

Section: Methodsmentioning

confidence: 99%

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Mutator phenotypes in human colorectal carcinoma cell lines.

Bhattacharyya

Skandalis

Ganesh

et al. 1994

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

354

243

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Section: Methodsmentioning

confidence: 99%

“…Fourteen colorectal carcinoma cell lines were screened for heterogeneity of microsatellite structure. Multiple alleles of the microsatellite locus DJS527 (15) Fig. 2).…”

Section: Microsateflite Instability In Colorectal Carcinoma Ceilmentioning

confidence: 99%

Mutator phenotypes in human colorectal carcinoma cell lines.

Bhattacharyya

Skandalis

Ganesh

et al. 1994

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

354

243

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“…The odds favoring the location of XRN distal to DXS255 are 495:1 and those favoring a location proximal to DMD are 11,000: 1. The genetic distance between DMD and DXS255 has been estimated to be 20 centiMorgans (30,32) and an examination of the known cloned and mapped genes (33) to this region of Xp has not revealed a potential candidate gene for XRN. The additional polymorphic markers DXS84 and OTC (Fig.…”

Section: Discussionmentioning

confidence: 99%

“…Varying the frequency of the disease had no effect on the results of the linkage analysis. The estimates used for the restriction fragment length polymorphism and microsatellite polymorphism allele frequencies have been previously reported (33). The penetrance of the mutant XRN gene has not been established.…”

Section: Methodsmentioning

confidence: 99%

Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies.

Scheinman¹,

Pook²,

Wooding³

et al. 1993

J. Clin. Invest.

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X-linked recessive nephrolithiasis is associated with kidney stones and renal tubular dysfunction in childhood progressing to renal failure in adulthood. The primary defect causing this renal tubular disorder is unknown and determining the chromosomal location of the mutant gene would represent an important step toward defining the biochemical basis. We have performed linkage studies in 102 members (10 affected males, 47 unaffected males, 15 obligate heterozygote females, and 30 unaffected females) from five generations of one family. As genetic markers we used 10 cloned human X chromosome fragments identifying restriction fragment length polymorphisms and seven pairs of oligonucleotide primers identifying microsatellite polymorphisms. Linkage with the locus DXS255 was established with a peak LOD score = 5.91 at 3.6% recombination, thereby localizing the X-linked recessive nephrolithiasis gene to the pericentromeric region of the short arm of the X chromosome (Xpl 1.22). Multilocus analysis indicated that the mutant gene was distal to DXS255 but proximal to the Duchenne muscular dystrophy locus on Xp. Thus, the gene that causes X-linked recessive nephrolithiasis maps to the pericentromeric region of the short arm of the X chromosome (Xpll.22), and further characterization of this gene will help to elucidate the factors controlling renal tubular function and mineral homeostasis. (J. Clin. Invest. 1993Invest. . 91:2351Invest. -2357

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“…Probes used (20) were pbc-Nl [American Type Culture Collection (ATCC)J, which detects an Msp I polymorphism at the HRAS locus; phins311 (ATCC), which detects a BamHI polymorphism at the IGF2 locus; phins310 (ATCC), which detects a Pst I polymorphism at the INS locus; pADJ762 (ATCC), which detects an Msp I polymorphism at the DIIS12 locus; p1596 (provided by Jack Lichy, National Cancer Institute, Bethesda, MD) (21) Three distinct regions showed frequent LOH, one on band 11p13 and two on band llplS.5 (Figs. 1-3).…”

mentioning

confidence: 99%

Three tumor-suppressor regions on chromosome 11p identified by high- resolution deletion mapping in human non-small-cell lung cancer

1995

Lung Cancer

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Non-small-cell lung cancer is the leading cause of cancer death for men and women in the ind ald nations. Identification of regions for genes involved in its pathogenesis has been difficult. Data presented here show three distinct regions identified on chromosome 11p. Two regions on 11pl3 distal to the Wilms tumor gene WT1 and on 11pl1.5 between the markers HBB and DIIS860 are described. The third region on the telomere of 11plS.5 has been previously described and is further delineated in this communication. By high-resolution mapping the size of each of these regions was estimated to be 2-3 megabases. The frequency of somatic loss of genetic information in these regions (57%, 71%, and 45%, respectively) was comparable to that seen in heritable tumors such as Wilms tumor (55%) and retinoblastoma (70%) and suggests their involvement in pathogenesis of non-small-cell lung cancer. Gene dosage analyses revealed duplication of the remaining allele in the majority of cases in the 11pl3 and the proximal 11p15.5 region but rarely in the distal 11pl5.5 region. In tumors with loss of heterozygosity in all three regions any combination of duplctin or simple deletion was observed, suggesting that loss ofheterozygosity occurs independently and perhaps at different points in time. These results provide a basis for studies directed at cloning potential tumor-suppressor genes in these regions and for assessing their biological and clinical sgnifcance In non-small-cell lung cancer.Non-small-cell lung cancer (NSCLC) comprises all primary malignant lung tumors except small-cell tumors and accounts for 80%o of all lung cancers. Many reasons should place NSCLC in the front line ofcancer research. Some ofthese are as follows: (i) the annual incidence of lung cancer is --3 x 106 worldwide and continues to rise; (ii) the number of young individuals without exposure to tobacco, in particular women, is rising; (iii) 87% of patients with NSCLC will die of the disease, and approximately 115,000 people annually succumb to NSCLC in the United States; (iv) the 5-year survival rate of 13% has not changed appreciably in the last 20 years; (v) screening of high-risk individuals with frequent chest radiographs and sputum cytological examinations was proven unsuccessful; and (vi) fresh specimens and wellcharacterized immortalized cell lines are now available (1). The molecular genetic data presented here will provide a focus for investigations to isolate genetic elements involved in NSCLC development and progression.The identification of regions for genes involved in the pathogenesis of NSCLC has been difficult because a possible familial rsk is obscured by environmental risk factors (2, 3) and because cytogenetic analyses have shown complex aberrations (4, 5). Molecular genetic studies have implicated chromosomes 3 (6, 7), 5 (8), 8 (9), 9 (10, 11), 11 (12, 13), and 17 (12) as possibly carrying disease-related regions. The present study was performed to specifically address whether chromosome 11 harbors NSCLC regions.Mechanisms by which re...

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Report of the DNA committee and catalogues of cloned and mapped genes, markers formatted for PCR and DNA polymorphisms (Part 1 of 27)

Cited by 86 publications

References 2 publications

Mutator phenotypes in human colorectal carcinoma cell lines.

Mutator phenotypes in human colorectal carcinoma cell lines.

Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies.

Three tumor-suppressor regions on chromosome 11p identified by high- resolution deletion mapping in human non-small-cell lung cancer

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