摘要:

AbstractThree methods to detect single base mutations in codon 61 of the humanNRASgene from human melanoma DNA are described and compared: oligonuceotide hybridization analysis and direct manual and automated sequence analysis. Point mutations are detected by oligonucleotide hybridization and direct manual and direct automated sequence analysis of in vitro amplified genomic DNA. Heterozygosity for mutant alleles is reliably detected by oligonucleotide hybridization and by direct manual, but not by direct automated, sequence analysis. Generating single‐stranded DNA via “asymmetric polymerase chain reaction (PCR)” and utilizing α35S‐dATP as radiolabel for manual sequencing and fluorescent‐dye labeled primers for automated sequencing (Applied Biosystems, Inc.), we can obtain sequence information from either strand. The use of several of these methodologies to detect single base changes in the humanNRASgene is illustrated. In addition, the use of these and other related techniques to define the involvement ofRASoncogenes in human melanomas more precisely i

ISSN:1045-2257    

DOI:10.1002/gcc.2870010402

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1990

数据来源: WILEY

摘要:

AbstractThe examination of sequential karyotypes in hematologic disorders has demonstrated that karyotypic changes are often associated with concurrent changes in clinical behavior. Acquired abnormalities that recur among different patients may also suggest genomic areas important to tumor progression. We therefore examined sequential karyotypes in 21 patients with non‐Hodgkin lymphoma (NHL). Sixteen of the 21 karyotypes demonstrated changes, including the majority of 6 small lymphocytic, 11 follicular, and 4 intermediate and high‐grade diffuse lymphomas. The t(14;18)(q32;q21) occurred in ten initial karyotypes and was retained in all cases. The band most frequently affected by newly acquired abnormalities was 14q32 (n = 5); chromosomes 1 and 2 (n = 5, each), and the 17p arm (n = 4) were also commonly affected. The acquired deletion of all or part of 17p appeared to be associated with a poor prognosis. Histologic transformation and karyotypic change did not correlate. This study of sequential karyotypes in NHL 1) confirms the primary importance of the t(14;18), 2) suggests that the 14q32 band is involved frequently in both primary and secondary cytogenetic events, and 3) suggests other genomic regions of potential significance to progress

ISSN:1045-2257    

DOI:10.1002/gcc.2870010403

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1990

数据来源: WILEY

摘要:

AbstractThe sole chromosome defect in a colon cancer cell line derived from a patient with inherited nonpolyposis colorectal cancer was karyotypically designated as 46, XY,−13,+der(13)t(1;13)(q32.1;p11) on the basis of banding homology. We have obtained molecular confirmation that the additional chromosome material is derived from chromosome region 1q32‐qter by the use of a highly specific fluorescent in situ hybridisation technique on G‐banded chromosomes and also by Southern hybridis

ISSN:1045-2257    

DOI:10.1002/gcc.2870010404

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1990

数据来源: WILEY

摘要:

AbstractA patient with Philadelphia (Ph1)‐negative, breakpoint cluster region (bcr)‐positive chronic myeloid leukemia (CML) is reported. Pulsed‐field gel electrophoretic analysis demostrated the comigration of bothABLandBCRsequences on the sameBss1–111 andSac11 fragment. Moreover, in situ hybridization studies demonstrated thatABLsequences had been moved from band 9q34 to 22q11 and that the additional t(12;12)(q13;p12) was not involved in theABL/BCRrelated translocation. Neverthless, a possible role of oncogenes or regulatory sequences activated or inhibited by the additional translocation cannot be e

ISSN:1045-2257    

DOI:10.1002/gcc.2870010405

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1990

数据来源: WILEY

摘要:

AbstractWe report karyotypic analysis of 24 male germ cell tumors (GCTs) with clonally abnormal karyotypes biopsied from testicular and extragonadal lesions from 20 patients belonging to the histologic categories seminoma, teratoma, embryonal carcinoma, choriocarcinoma, and endodermal sinus tumor. Chromosomes 1, 7, 9, 12, 17, 21, 22, and the X chromosome were nonrandomly gained in these tumors. Nonrandom structural changes affected most frequently chromosomes 1 and 12, the latter as i(12p) and/or del(12)(q13→q22). The i(12p) was seen in 90% of tumors which included all histologic subtypes and gonadal as well as extragonadal presentation. Our present results, along with those from published data on fresh GCT biopsies, establish that i(12p) is a highly nonrandom chromosome marker of all histologic as well as anatomic presentations of GCTs. In contrast, we found del(12)(q13→q22) exclusively in nonseminomatous GCTs (NSGCTs) and mixed GCTs (MGCTs) occurring in 44% of such lesions. Because successful cytogenetic analysis of fresh tumor specimens is not always possible, we developed a method based on DNA analysis to detect i(12p) as increased copy number of 12p. In addition to the changes affecting chromosome 12 identified above, we have detected, for the first time, cytological evidence of gene amplification in the form of homogeneously staining regions (HSRs) and double minute chromosomes (dmins) in treated as well as untreated primary extragonadal and metastatic GCTs and confirmed the presence of amplified DNA in one of these tumors at the molecular level by the in‐gel renaturation method. Hybridization of DNA from cultured cells from an HSR‐bearing tumor with a panel of probes for genes known to be amplified or otherwise perturbed in diverse tumor systems did not identify the amplified gene, suggesting amplification of a novel gene or genes. This study comprises the largest series of GCT cytogenetics attempted so far. Notably, it includes data on a series of primary mediastinal tumors, a group which previously has not been studied in any

ISSN:1045-2257    

DOI:10.1002/gcc.2870010406

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1990

数据来源: WILEY

摘要:

AbstractThe t(11;14)(p13;q11) translocation is one of the most frequent chromosomal abnormalities in T‐cell acute lymphoblastic leukemia (ALL). Ten different leukemias carrying this translocation have been analysed and all 10 breakpoints fall within a region of less than 25 kb on chromosome band 11p13. We have used PFGE and cosmid cloning to assess the presence of potential genes by analysing methylation‐free islands in the vicinity. Four methylation‐free islands, within 270 kb, flank the t(11;14)‐associated breakpoint cluster region (T‐ALLbcr), one occurring about 25 kb on the telomeric side and one about 100 kb on the centromeric side of the T‐ALLbcr. Evidence for eight further methylation‐free islands on both sides of the T‐ALLbcrregion is also presented. Thus multiple methylation‐free islands exist on 11p13 flanking the t(11;14)(p13;q11) translocation‐associated breakpoint cluster region, representing multiple potential transcription units whose chromosomal environment is altered by chrom

ISSN:1045-2257    

DOI:10.1002/gcc.2870010407

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1990

数据来源: WILEY

摘要:

AbstractA patient with acute non‐lymphoblastic leukemia, FAB type M2, showed a complex karyotype involving chromosomes 1 and 11. The breakpoints could not be exactly identified by GTG and QFQ banding. A subsequent analysis withAluIandHaeIII restriction enzyme staining allowed the detection of a translocation of the heterochromatic region of chromosome 1 to 11q2

ISSN:1045-2257    

DOI:10.1002/gcc.2870010408

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1990

数据来源: WILEY

摘要:

AbstractThe aim of the present study was to determine whether loss of DNA sequences at the chromosome arm 11p, where presumed tumor suppressor genes are located, might occur in hepatocellular carcinomas (HCCs) of hepatitis B virus (HBV) negative patients. Normal liver and HCC genotypes were compared at 6 loci on 11p with 7 polymorphic probes detecting 10 restriction length polymorphisms (RFLPs). Each of the 8 paired normal‐tumor tissue samples was informative for at least three different loci on 11p13‐pter. None of them showed loss of constitutional heterozygosity for those markers. The retainment of 11p alleles suggests that mechanisms other than loss of tumor suppressor genes on 11p are involved in hepatocarcinogenesis of HBV negative patie

ISSN:1045-2257    

DOI:10.1002/gcc.2870010409

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1990

数据来源: WILEY

摘要:

AbstractCytogenetic analysis of a cavernous hemangioma with transition to angiosarcoma revealed the mosaic karyotype 47, XY,+5/46, X,‐Y,+5/45, X,‐Y/46, XY. No cytogenetically analyzed hemangiomas or angiosarcomas have been reported bef

ISSN:1045-2257    

DOI:10.1002/gcc.2870010410

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1990

数据来源: WILEY

ISSN:1045-2257    

DOI:10.1002/gcc.2870010411

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1990

数据来源: WILEY