PMID: 3755117Jun 1, 1986Paper

Choroideremia-locus maps between DXS3 and DXS11 on Xq

Human Genetics
A GalI H Pawlowitzki

Abstract

Choroideremia is a progressive tapetochoroidal dystrophy with X-linked transmission leading frequently to blindness in affected males. The choroideremia-locus (TCD) has recently been assigned to the long arm of the X chromosome by linkage to polymorphic DNA markers. In order to further define the location of the gene defect, two families segregating for choroideremia were examined for DNA restriction fragment length polymorphisms. A search was undertaken for linkage with cloned DNA probes from the proximal short and long arm as well as from the mid-portion of the long arm of the X chromosome. Our data suggest that the most plausible gene order on the Xq is: Xcen-DXYS1-DXS3-TCD-DXS11-Xqter.

References

Jun 1, 1986·Human Genetics·A GalI H Pawlowitzki
Jan 1, 1985·Cytogenetics and Cell Genetics·A de la Chapelle
Jan 1, 1985·Cytogenetics and Cell Genetics·P N GoodfellowH H Ropers
Nov 15, 1985·Science·D Drayna, R White
Jan 1, 1971·Clinical Genetics·A G Bell, J C McCulloch
Jan 1, 1968·Acta Ophthalmologica·A Other
Sep 1, 1982·Proceedings of the National Academy of Sciences of the United States of America·D PageD Botstein
May 1, 1984·Proceedings of the National Academy of Sciences of the United States of America·D DraynaR White
Oct 1, 1952·The British Journal of Ophthalmology·A SORSBYJ B DAVEY

❮ Previous
Next ❯

Citations

Nov 1, 1987·Human Genetics·I M MacDonaldM P Tenniswood
Sep 8, 1993·Biochimica Et Biophysica Acta·B S Shastry
Dec 13, 1986·Lancet·I H PawlowitzkiR von Gizycki
Aug 1, 1990·Journal of Medical Genetics·A F WrightB Jay
Jun 1, 1986·Human Genetics·A GalI H Pawlowitzki
Jan 1, 1989·American Journal of Medical Genetics·B SchlegelbergerW Grote
Nov 1, 1987·Ophthalmic Paediatrics and Genetics·T RosenbergM Schwartz

❮ 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.