Loss of heterozygosity and allelic imbalance in apocrine metaplasia of the breast: microdissection microsatellite analysis

2002 ◽  
Vol 196 (3) ◽  
pp. 287-291 ◽  
Author(s):  
Abdel-Ghani A. Selim ◽  
Andy Ryan ◽  
Ghada El-Ayat ◽  
Clive A. Wells
Keyword(s):  
Loss Of Heterozygosity ◽  
Allelic Imbalance ◽  
Microsatellite Analysis ◽  
Apocrine Metaplasia

Loss of Heterozygosity on Chromosomes 1, 2, 8, 9 and 17 in Cerebral Atherosclerotic plaques

2001 ◽  
Vol 16 (3) ◽  
pp. 167-171 ◽  
Author(s):  
P. Miniati ◽  
G. Sourvinos ◽  
M. Michalodimitrakis ◽  
D.A. Spandidos
Keyword(s):  
Loss Of Heterozygosity ◽  
Allelic Imbalance ◽  
Genetic Alterations ◽  
Microsatellite Analysis ◽  
Atherosclerotic Plaques ◽  
Potential Implication ◽  
Molecular Alterations ◽  
Significant Incidence ◽  
Polymerase Chain ◽  
Chromosomal Loci

Objective Atherosclerosis is a fibroproliferative disease which has been attributed to several factors including genetic and molecular alterations. Initial studies have shown genetic alterations at the microsatellite level in the DNA of atherosclerotic plaques. Extending our initial findings, we performed a microsatellite analysis on cerebral atherosclerotic plaques. Methods Twenty-seven cerebral atherosclerotic plaques were assessed for loss of heterozygosity (LOH) and microsatellite instability (MI) using 25 microsatellite markers located on chromosomes 2, 8, 9 and 17. DNA was extracted from the vessels as well as the respective blood from each patient and subjected to polymerase chain reaction. Results Our analyses revealed that specific loci on chromosomes 2, 8, 9 and 17 exhibited a significant incidence of LOH. Forty-six percent of the specimens showed loss of heterozygosity at 2p13–p21, 48% exhibited LOH at 8p12–q11.2, while allelic imbalance was detected in 47% of the cases. The LOH incidence was 39%, 31% and 27% at 17q21, 9q31–34 and 17p13, respectively. Genetic alterations were detected at a higher rate as compared to the corresponding alterations observed in plaques from other vessels. Discussion This is the first microsatellite analysis using atherosclerotic plaques obtained from cerebral vessels. Our results indicate an elevated mutational rate on specific chromosomal loci, suggesting a potential implication of these regions in atherogenesis.

scholarly journals Loss of Heterozygosity and PCR Artifacts in a Microsatellite Analysis of Psoriasis and Colorectal Cancer

2002 ◽  
Vol 17 (5) ◽  
pp. 641 ◽  
Author(s):  
Jeong Sun Hyun ◽  
Bo Kyong Jo ◽  
Chul Jong Park ◽  
Jong Yuk Yi ◽  
Jun Young Lee ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Loss Of Heterozygosity ◽  
Microsatellite Analysis

scholarly journals Segmentation-based detection of allelic imbalance and loss-of-heterozygosity in cancer cells using whole genome SNP arrays

2008 ◽  
Vol 9 (9) ◽  
pp. R136 ◽  
Author(s):  
Johan Staaf ◽  
David Lindgren ◽  
Johan Vallon-Christersson ◽  
Anders Isaksson ◽  
Hanna Goransson ◽  
...  
Keyword(s):  
Cancer Cells ◽  
Loss Of Heterozygosity ◽  
Allelic Imbalance ◽  
Whole Genome ◽  
Snp Arrays

scholarly journals Allelic imbalance studies of chromosome 9 suggest major differences in chromosomal instability among nonmelanoma skin carcinomas

2004 ◽  
Vol 122 (1) ◽  
pp. 18-21
Author(s):  
Gabriela Pereira Gomes ◽  
Aparecida Machado Moraes ◽  
Hamilton Ometto Stoff ◽  
Laura Sterian Ward
Keyword(s):  
Microsatellite Instability ◽  
Loss Of Heterozygosity ◽  
Basal Cell ◽  
Allelic Imbalance ◽  
Sao Paulo ◽  
Chromosome 9 ◽  
São Paulo ◽  
Wide Range ◽  
Basal Cell Carcinomas ◽  
Malignant Skin

CONTEXT: Loss of heterozygosity in the 9p21-p22 region, has been frequently described in a wide range of human malignancies, including familial melanomas. Also, losses and gains in other regions of chromosome 9 have frequently been observed and may indicate additional mechanisms for basal cell tumorigenesis. OBJECTIVE: To investigate allelic imbalance in the 9p21-p22 region, among basal cell carcinomas. TYPE OF STUDY: Microsatellite analysis. SETTING: Two dermatology services of public universities in São Paulo and the Laboratory of Cancer Molecular Genetics of Universidade Estadual de Campinas (Unicamp). PARTICIPANTS: 13 patients with benign skin lesions consecutively referred to the outpatient dermatology clinics of Unicamp and Universidade Estadual de São Paulo (Unesp) and 58 with malignant skin tumours. MEAN MEASUREMENTS: We examined 13 benign cases including four of solar keratosis, three keratoachanthomas, three melanocytic nevi, two of Bowen's disease and one of neurofibroma, and 58 malignant skin tumors: 14 of squamous cell, 40 basal cell carcinomas and four melanomas. Participating patients had the main tumor and a normal portion of non-adjacent skin surgically removed. DNA was extracted from the tumor and matching normal tissue. We used four sets of primers to amplify polymorphic microsatellite repeats on chromosome 9, two of them targeting the 9p21-p22 region. RESULTS: We identified eight cases (20%) of allelic imbalance among basal cell carcinomas, two cases of loss of heterozygosity and six cases of microsatellite instability in the 9p21-p22 region. Additional markers were also involved in three of these tumors. No events were detected among the benign or the other malignant cases. CONCLUSION: This phenotype dependency suggests that there is a major distinction between the two most important forms of nonmelanoma skin cancers in their tendency to present microsatellite instability in chromosome 9. Since the CDKN2a/p16INK4a, p19ARF and p15INK4b tumor suppressor genes do not appear to be responsible for the observed abnormalities, other genes at 9p21-p22 may be involved in the pathogenesis and progression pathway of basal cell carcinomas.

Microsatellite analysis of allelic imbalance in tumour and blood from patients with prostate cancer

2008 ◽  
Vol 102 (2) ◽  
pp. 253-258 ◽  
Author(s):  
Heidi Schwarzenbach ◽  
Felix K.-H. Chun ◽  
Imke Müller ◽  
Christoph Seidel ◽  
Karoline Urban ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Allelic Imbalance ◽  
Microsatellite Analysis

Mosaicism due to myeloid lineage–restricted loss of heterozygosity as cause of spontaneous Rh phenotype splitting

Blood ◽  
2007 ◽  
Vol 110 (6) ◽  
pp. 2148-2157 ◽  
Author(s):  
Günther F. Körmöczi ◽  
Eva-Maria Dauber ◽  
Oskar A. Haas ◽  
Tobias J. Legler ◽  
Frederik B. Clausen ◽  
...  
Keyword(s):  
Blood Group ◽  
Loss Of Heterozygosity ◽  
Fluorescent In Situ Hybridization ◽  
Microsatellite Analysis ◽  
Red Cells ◽  
Chromosome 1 ◽  
Hematologic Disease ◽  
Myeloid Lineage ◽  
Hematopoietic Stem

Abstract Spontaneous Rh phenotype alteration interferes with pretransfusion and prenatal blood group examinations and may potentially indicate hematologic disease. In this study, the molecular background of this biologic phenomenon was investigated. In 9 patients (3 with hematologic disease), routine RhD typing showed a mixture of D-positive and D-negative red cells not attributable to transfusion or hematopoietic stem-cell transplantation. In all patients, congenital and acquired chimerism was excluded by microsatellite analysis. In contrast to D-positive red cells, D-negative subpopulations were also negative for C or E in patients genotyped CcDdee or ccDdEe, respectively, which suggested the presence of erythrocyte precursors with an apparent homozygous cde/cde or hemizygous cde/— genotype. Except for one patient with additional Fyb antigen anomaly, no other blood group systems were affected. RH genotyping of single erythropoietic burst-forming units, combined with microsatellite analysis of blood, different tissues, sorted blood cell subsets, and erythropoietic burst-forming units, indicated myeloid lineage–restricted loss of heterozygosity (LOH) of variable chromosome 1 stretches encompassing the RHD/RHCE gene loci. Fluorescent in situ hybridization studies indicated that LOH was caused by either somatic recombination or deletion. Therefore, most cases of spontaneous Rh phenotype splitting appear to be due to hematopoietic mosaicism based on LOH on chromosome 1.

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