Genetic epidemiology of Menkes disease

Genetic Epidemiology
N Horn, N E Morton

Abstract

Copper incorporation studies were performed on individuals from 58 pedigrees, comprising 140 sibships. As previously reported, there is considerable overlap between heterozygotes and normal homozygotes. Segregation analysis supports recessive inheritance of disease, with residual heritability for 64Cu uptake in cultured cells. The population frequency of sporadic cases is compatible with the 1/3 expected for an X-linked lethal with equal mutation rates in egg and sperm, which implies a mutation rate of 6.7 X 10(-6)/gamete/generation. The parameters estimated here are likely to provide the best basis for genetic counseling until more reliable carrier tests are performed on a systematic sample from a large, defined population.

References

Nov 1, 1978·The American Journal of Medicine·A B NicholsG M Pohost
Jan 1, 1975·Advances in Human Genetics·F Vogel, R Rathenberg
Jan 1, 1983·Journal of Inherited Metabolic Disease·N Horn
Jan 1, 1983·Journal of Chronic Diseases·P Philippe
Feb 1, 1983·American Journal of Medical Genetics·W R WilliamsN E Morton
Jan 1, 1981·Human Heredity·J M Lalouel, N E Morton

❮ Previous
Next ❯

Citations

Nov 6, 2009·European Journal of Human Genetics : EJHG·Zeynep Tümer, Lisbeth B Møller
Feb 25, 2005·Genetic Testing·Lena PoulsenNina Horn
Jan 1, 1988·Brain & Development·J H Menkes
May 1, 1997·Journal of Pediatric Surgery·T OshioK Fukuda
Sep 15, 2014·Epilepsy Research·Alberto VerrottiLucio Giordano
Jul 20, 2014·Journal of Child Neurology·Alberto VerrottiGiangennaro Coppola
Jul 1, 2005·Human Molecular Genetics·Alec J Jeffreys, Rita Neumann
Jun 29, 2002·Nature Genetics·Alec J Jeffreys, Rita Neumann
Dec 1, 1990·Cadernos de saúde pública·A Gonçalves, N N da Silva e Gonçalves

❮ 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.