Towards identification of X-linked mental retardation genes: a proposal

American Journal of Medical Genetics
J L Mandel

Abstract

Identification of X linked mental retardation (XLMR) genes that can only be broadly localised by linkage analysis will ultimately depend on systematic screening of many probands for mutations in many candidate genes. This would be more efficiently performed by analysis of mRNA (or illegitimate transcripts) by reverse transcriptase-polymerase chain reaction (RT-PCR). A scheme is proposed that associates standardized reporting of XLMR families, including small families that would not by themselves yield statistically significant linkage information, and deposit of a lymphoblastoid cell line for one proband of each family to an accessible repository.

References

Oct 29, 1992·Nature·J WeissenbachM Lathrop
Mar 15, 1992·Proceedings of the National Academy of Sciences of the United States of America·R G RobertsD R Bentley
Apr 1, 1992·American Journal of Medical Genetics·G NeriI A Glass
Apr 1, 1992·American Journal of Medical Genetics·J C MulleyH Lubs
Apr 1, 1992·American Journal of Medical Genetics·B KerrG Turner
Jun 1, 1991·Journal of Medical Genetics·I A Glass
Jun 1, 1991·Journal of Medical Genetics·B KerrM Partington
Feb 1, 1991·American Journal of Medical Genetics·J F Arena, H A Lubs
Apr 1, 1989·Proceedings of the National Academy of Sciences of the United States of America·J ChellyA Kahn
Jul 15, 1994·American Journal of Medical Genetics·L J HuJ L Mandel
Dec 1, 1993·Proceedings of the National Academy of Sciences of the United States of America·S BioneD Toniolo
Oct 1, 1993·Nature Genetics·M Grompe
Nov 1, 1993·Human Molecular Genetics·J E Parrish, D L Nelson
Aug 1, 1993·Nature Genetics·M H PolymeropoulosC R Merril
Feb 15, 1993·American Journal of Medical Genetics·J P Fryns

❮ 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.