PMID: 2507442Aug 1, 1989Paper

Characterization of a translocation within the von Recklinghausen neurofibromatosis region of chromosome 17

Genomics
A G MenonJ L Haines

Abstract

The genetic defect causing von Recklinghausen neurofibromatosis (NF1) has been mapped to the proximal long arm of chromosome 17 by linkage analysis. Flanking markers have been identified, bracketing NF1 in 17q11.2 and laying the foundation for isolating the disease gene. Recently, a family in which a mother and her two children show both the symptoms of NF1 and the presence of a balanced translocation, t(1;17)(p34.3;q11.2), has been identified. We have examined the possibility that the translocation has occurred in or near the NF1 gene by constructing a somatic cell hybrid line containing the derivative chromosome 1 (1qter-p34.3::17q11-qter). On chromosome 1, the breakpoint occurred between SRC2 and D1S57, which are separated by 14 cM. The translocation breakpoint was localized on chromosome 17 between D17S33 and D17S57, markers that also flank NF1 within a region of 4 cM. These data are consistent with the possibility that the translocation event is the cause of NF1 in this pedigree. Consequently, the isolation of the translocation breakpoint, by approach from either the chromosome 1 or the chromosome 17 side, may facilitate the identification of the NF1 gene.

Citations

Oct 1, 1991·Current Opinion in Neurobiology·R WhiteP O'Connell
Sep 1, 1990·Proceedings of the National Academy of Sciences of the United States of America·M K YagleE Solomon
May 1, 1993·Proceedings of the National Academy of Sciences of the United States of America·A ZieglerA E Bale
Jan 1, 1991·The British Journal of Dermatology·C Moss
Jan 1, 1991·Annals of the New York Academy of Sciences·P O'ConnellA M Buchberg
Oct 1, 1993·The British Journal of Ophthalmology·N K Ragge
Feb 11, 2016·Seminars in Cell & Developmental Biology·Ellie Rad, Andrew R Tee
Oct 1, 1991·Genomics·D SansomJ Trowsdale
Feb 1, 1992·Current Problems in Pediatrics·V M Riccardi
Jun 1, 1991·Current Opinion in Genetics & Development·R White, P O'Connell
Feb 1, 1995·Journal of the American Academy of Dermatology·S SawadaM Niimura
Oct 1, 1992·Clinical Genetics·N TommerupG B Petersen
Jan 1, 1995·Annals of Surgical Oncology·B J Rossiter, C T Caskey
Jul 28, 1995·Biochimica Et Biophysica Acta·A Bernards
Jan 1, 1994·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·S D Colman, M R Wallace
Jun 2, 1989·Science·J W FountainF S Collins

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.