PMID: 2499679May 1, 1989Paper

Further evidence localising the gene for Hunter's syndrome to the distal region of the X chromosome long arm

Journal of Medical Genetics
S H RobertsP S Harper

Abstract

Cytogenetic re-evaluation of a fibroblast cell line from a female Hunter's syndrome case with a balanced X;autosome translocation, which had previously been reported to have a breakpoint in Xq26 to Xq27, showed the breakpoint to be either between Xq27 and Xq28 or within Xq28. The normal X chromosome was preferentially inactivated, supporting the view that the translocation had disrupted the Hunter gene. The new localisation is now in full agreement with our previous linkage work and other published data. Results of further linkage studies using probes defining the loci DXS86, DXS144, DXS100, DXS102, DXS105, F8C, and DXS134 are also consistent with our original conclusion that the Hunter locus lies within the distal region of the X chromosome long arm.

References

Mar 1, 1988·Human Genetics·W T BrownR Hagerman
Jan 1, 1987·Cytogenetics and Cell Genetics·K E DaviesM Fellous
Oct 30, 1971·Lancet·M Seabright
Jun 1, 1984·Proceedings of the National Academy of Sciences of the United States of America·G M LathropJ Ott

❮ Previous
Next ❯

Citations

Jun 1, 1992·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·M AdinolfiD Moralli
Jan 1, 1994·Prenatal Diagnosis·A H Fensom, P F Benson
May 1, 1992·Annals of Human Genetics·S Stone, M Adinolfi
Jan 1, 1991·Annals of the New York Academy of Sciences·H G BrunnerH H Ropers
Dec 1, 1992·American Journal of Medical Genetics·B WinchesterS Malcolm
Jan 15, 1992·American Journal of Medical Genetics·D Du SartM Schmidt
Jan 1, 1996·Human Mutation·S L GoldenfumB Winchester
Jan 1, 1993·Developmental Medicine and Child Neurology·M Adinolfi
Jul 10, 1999·Journal of Inherited Metabolic Disease·A VellodiJ E Wraith
Jan 1, 1992·Survey of Ophthalmology·M A Musarella
Dec 8, 1989·Science·G K SuthersK E Davies

❮ 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.