Analysis of loss of heterozygosity for the retinoblastoma gene

by Xiaoping Zhu

Publisher: National Library of Canada in Ottawa

Written in English
Published: Downloads: 753
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Edition Notes

Thesis (M.Sc.)--University of Toronto, 1991.

SeriesCanadian theses = Thèses canadiennes
The Physical Object
Pagination2 micrifiches.
ID Numbers
Open LibraryOL21187443M
ISBN 100315653930

Loss of Heterozygosity Occurs Centromeric to RB Without Associated Abnormalities in the Retinoblastoma Gene in Tumors from Patients with Metastatic Renal Cell Carcinoma McClellan M. Walther, James R. Gnarra, Lori Elwood, Hong Ji Xu, Charles Florence, Patrick Anglard, Shi Xue Hu, Chris King, Emile Trahan, Kathy Hurley, Donald Sens, David Venzon. Journal Article: Concordance between parental origin of chromosome 13q loss and chromosome 6p duplication in sporadic retinoblastoma. In patient M this finding was unexpected because he had isolated unilateral retinoblastoma and less than 15% of these patients are carriers of RB1 gene mutations. 3, 7 All three deletions occurred de novo because analysis of peripheral blood DNA from parents showed only normal RB1 alleles. On the level of the transcript the most probable. Retinoblastoma (Rb) and p16 gene products are part of the retinoblastoma pathway that controls the cell cycle regulation is critical in tumorigenesis and Rb gene inactivation has been reported in many cancers. The Rb gene is located on the long arm of chromosome The retinoblastoma protein is a nuclear phosphoprotein that is expressed in most normal cells.

Loss of heterozygosity on chromosome 17 and mutation of the p53 gene in retinoblastoma Article (PDF Available) in Cancer Letters (1) September with 84 . Anisometric cell lipoma (ACL) and dysplastic lipoma (DL) are underrecognized subtypes of benign lipomatous tumors, with wide variation in cell size, microscopic fat necrosis, and no or mild nuclear. In this study, molecular genetic analysis was performed on 23 nonfamilial meningiomas. Paired DNA samples extracted from the blood and tumors of the patients were analyzed for loss of heterozygosity (LOH) in the region of the NF2 gene on chromosome 22 using closely linked DNA markers. Retinoblastoma is a malignant retinal neoplasm arising in infancy as a result of inactivating mutations in both alleles of the retinoblastoma susceptibility gene, RB1. Identification of the causati.

Loss of heterozygosity in human primary prostate carcinomas: a possible tumor suppressor gene at 7q Cancer Res ; – CAS PubMed Google Scholar. (a) Section through the eye of a 10 week old wild-type male offspring from a heterozygous female. Morphological analysis of eyes from gene targeted males was performed at the age of 6 (b), 10 (c), 12 (d), 22 (e) and 26 (f) weeks after birth. The 5 µm sections were stained with hematoxylin and eosin. Loss of heterozygosity (LOH) analysis based on genotyping probes. DNA extracted from 3 prostatic lesions derived from Pten heterozygous mice is examined with genotyping primers for the wild-type (WT) and mutant (mut) Pten exon used to construct the mouse. Heterozygous DNA produces two bands on agarose gel (lane 18), whereas LOH is represented. Journal Article: Utilization of touch preparations and whole genome amplification for loss of heterozygosity analysis in prostate cancer. Utilization of touch preparations and whole genome amplification for loss of heterozygosity analysis in prostate cancer. Full Record;.

Analysis of loss of heterozygosity for the retinoblastoma gene by Xiaoping Zhu Download PDF EPUB FB2

The gene might be completely gone, or part of it might have been moved to another location on the DNA. In either case, the protein encoded by the gene cannot be correctly made.

Instead of having two different versions of the same gene present (heterozygosity), one copy of the gene is now gone.   This is why it is called loss of.

Function of the Retinoblastoma Protein (pRB) The protein product of the RB1 gene is a nuclear phosphoprotein with a molecular weight of aboutDaltons known as pRb or, more commonly, as pRb.

39 Harlow and colleagues' studies provided the first critical insights into pRb function. They demonstrated that pRb formed a complex with the E1A oncoprotein encoded by the murine DNA Author: Ben Ho Park, Bert Vogelstein.

Schwarzenbach, in Brenner's Encyclopedia of Genetics (Second Edition), Abstract. Loss of heterozygosity (LOH) is a common form of allelic imbalance by which a heterozygous somatic cell becomes homozygous because one Analysis of loss of heterozygosity for the retinoblastoma gene book the two alleles gets lost.

This form of chromosome instability is sufficient to provide selective growth advantage and has been recognized as a major cause of. Loss of heterozygosity (LOH) is a cross chromosomal event that results in loss of the entire gene and the surrounding chromosomal region. All diploid cells, for example most human somatic cells, contain two copies of the genome, one from each parent (chromosome pair); each human copy contains approximately 3 billion bases (adenine (A), guanine (G), cytosine (C) or thymine (T)).

Loss of Retinoblastoma Gene Function and Heterozygosity at the RB Locus in Renal Cortical Neoplasms SYELING LAI, MD, MS, WILLIAM F, BENEDICT, MD, SUSAN A, SILVER, MD, AND ADEL K, EL-NAGGAR, MD, PHD Alteration of the retinoblastoma (RB) gene, located on chromo- some 13q14, has been implicated in the pathogenesis and biological behavior of several human by: We investigated sequence alternation, promoter methylation, and loss of heterozygosity (LOH) of the RB1 gene as possible mechanisms of its inactivation in retinoblastoma.

In 42 Chinese patients with sporadic retinoblastoma, the promoter and entire coding region. Loss of heterozygosity of the retinoblastoma and adenomatous polyposis susceptibility gene loci and in chromosomes 10p, 10q and 16q in human prostate cancer.

Br J Urol. Apr; 73 (4)– Sarkar FH, Sakr W, Li YW, Macoska J, Ball DE, Crissman JD. Analysis of retinoblastoma (RB) gene deletion in human prostatic carcinomas. Prostate. ıas et al.

/ Spectrum of RB 1 gene mutations and loss of heterozygosity in Mexican patients with retinoblastoma 99 Italian patients with retinoblastoma rev els 11 novel mutations, J Hum Genet   h, SNP-array analysis of two Rb/pdepleted cone precursor cell lines (1, 2), revealing no megabase-size loss of heterozygosity (LOH) or copy number alterations (CNA).

By loss of heterozygosity analysis, () Loss of heterozygosity in the retinoblastoma tumor suppressor gene in skull base chordomas and.

Retinoblastoma (RB) tumors arise when both alleles of the RB1 gene are inactivated by two mutational events (M1 and M2). M1 can be an initial germline or somatic mutation; M2 is frequently loss of heterozygosity (LOH), which makes the cell homozygous or hemizygous for the original mutation.

Key Words: prostate carcinoma, loss of heterozygosity, tumor suppressor gene, human chromos tissue microdissection. Prostate cancer is the most common cancer and the second leading cause of cancer death in men.

[1] Inan estimatednew cases were diagnosed, and approximat died of this disease. [1] Treatment of advanced stages of this disease. Journals & Books; Register Sign in. Vol Issue 6, JunePages Original contribution.

Loss of retinoblastoma gene function and heterozygosity at. Importantly, the region of acquired DNA loss includes two established tumour suppressor genes, the retinoblastoma gene, RB (RB1) and BRCA2. Resolution of whether RB or BRCA2 is the critical 13q tumour suppressor gene in parathyroid cancer requires analysis of these genes' sequences for intragenic inactivating mutations.

Because such a child is heterozygous at the RB locus, this implies that heterozygosity for the RB gene does not affect cell behavior. Cancer develops when the cell becomes homozygous for the mutant allele or, put another way, when the cell loses heterozygosity for the normal RB gene (a condition known as LOH, for loss of heterozygosity).”.

Retinoblastoma is a childhood cancer of the retina. Although the disease is relatively rare accounting for 2% of childhood cancers 1, retinoblastoma is the most.

b Whole-exome sequencing data from chromos demonstrating biallelic inactivation of the RB1 gene secondary to loss of heterozygosity and the acquisition of a nonsense RB1 gene mutation (cC>T, p.R*).

Name and genetics. In humans, the protein is encoded by the RB1 gene located on chromosome 13—more specifically, 13qqIf both alleles of this gene are mutated early in life, the protein is inactivated and results in development of retinoblastoma cancer, hence the name 'Rb'.

Retinal cells are not sloughed off or replaced, and are subjected to high levels of mutagenic UV radiation. We recently showed loss of pRb in a proportion of pituitary tumors that was not associated with loss of heterozygosity of an RB1 intragenic marker.

To further define the mechanism responsible for loss of retinoblastoma protein (pRb) expression, we have investigated the methylation status of the CpG island contained within the promoter region of the RB1 gene, together with sequence analysis of.

A deletion of the long arm of chromos with loss of chromosome band 13q14, is a chromosomal abnormality typical of sporadic, ordinary lipomas (5,11–13). However, to our knowledge, our case is the first to provide direct evidence by FISH and microsatellite studies of heterozygous loss of the RB1 gene.

Humans with a germline mutation of the RB gene are predisposed to retinoblastoma with a 90% penetrance and are at higher risk for other rare tumors. We have established a mouse strain carrying a germ-line mutation of the Rb-1 gene. Here we describe a. Abstract. The loss of heterozygosity (LOH) in tumour suppressor gene loci such as p53, retinoblastoma (rb) and adenomatous polyposis coli (apc) were analyzed in oral cancer tissues with matched controls by employing polymerase chain reaction based/restriction fragment length polymorphism (PCR-RFLP), variable number of tandem repeats (PCR-VNTR) analysis and.

Mice bearing retinoblastoma susceptibility gene (RB) germline mutations almost invariably develop pituitary neoplasms. We therefore tested 17 patients with pituitary tumors for loss of heterozygosity (LOH) using an RB sequence polymorphism and 5 polymorphic microsatellite markers surrounding the RB gene on the long arm of chromosome Loss of heterozygosity (LOH) on chromosome 13 occurs on % of breast tumours.

This may reflect the inactivation of the retinoblastoma susceptibility gene RB1. However, recently another.

(D) Retinoblastoma surgical tumor of Case 3 was found to be heterozygous for two different RB1 mutant alleles. DNA from retina, retinoma and retinoblastoma microdissected from the paraffin embedded eye was sequenced for the two alleles, cC→T (RX) and cG→T (GX).

The retinoblastoma (RB) tumour suppressor gene is implicated in the development of several malignancies including osteosarcoma. Recent studies postulated its loss of heterozygosity (LOH) to be a poor prognostic factor at diagnosis of osteosarcoma (OS).

It remains unclear whether LOH of the RB gene is suitable as a prognostic factor at. Loss of heterozygosity at the retinoblastoma locus in human pituitary tumors. To determine whether the RB gene mi An analysis of abnormalities of the retinoblastoma gene in human ovarian and endometrial carcinoma - Sasano - - Cancer.

Because BRCA1 and BRCA2 have a transcription-activating function, alterations in the levels of BRCA1 and BRCA2 proteins in cells heterozygous for mutation in BRCA1 or BRCA2 might be expected to lead to multiple gene expression differences, and indeed Gene Ontology and pathway analysis revealed that these genes are predictably related to.

The U.S. Department of Energy's Office of Scientific and Technical Information. The presence of retinoblastoma (RB) protein was evaluated by immunohistochemical staining and correlated with loss of heterozygosity (LOH) at the RB locus in 52 primary epithelial ovarian carcinomas.

Forty-eight tumors were informative at the RB locus by molecular genetic analysis. Twenty-five tumors (52%) showed loss of heterozygosity at the RB locus.To determine whether the retinoblastoma susceptibility gene (Rb) on 13q 14 contributes to the formation of astrocytomas, we examined 85 tumors for loss of heterozygosity (LOH) at the intragenic Rb locus.

LOH was detercted in 16 of 54 informative high‐grade astrocytomas (30%), but was not detected in 12 low‐grade gliomas.Among 6 patients where intratumoral analysis detected a single mutation associated with a loss of heterozygosity, the peripheral blood analysis was able to detect the same mutation in 3 cases (50%).

CONCLUSIONS: Intratumoral genetic analysis of sporadic retinoblastoma can .