The molecular characterization of Gaucher disease in South Africa

Clinical Genetics
B Morar, A B Lane

Abstract

DNA from 29 southern African Gaucher disease patients was analyzed for five common Gaucher disease mutations: 1226G, 1448C, 84GG, IVS2 + 1 and 1504T. The origins of the patients were as follows: 14 Ashkenazi Jews; 6 Gentile Caucasoids; 8 Negroids; and one of mixed ancestry. The 1226G allele accounted for 80% of disease alleles in the Jewish patients, 50% of alleles in the Gentile Caucasoid patients and was absent from the Negroid patients. The 1448C allele was present in both the Jewish (1 of 24 alleles) and Negroid patients (3 of 16 alleles). Single-strand conformation polymorphism analysis was successfully used to detect mutation 1226G. This system also revealed the presence of mutation 1297T in a Jewish patient and a novel point mutation, 1277T, in an Afrikaans-speaking Caucasoid patient. Screening of 360 unrelated, healthy Ashkenazi Jewish volunteers to estimate the frequency of disease alleles in the local population led to the detection of 17 carriers: 16 possessed the 1226G allele (frequency = 0.0222), and one the 1297T allele (frequency = 0.0014). Using these results, together with the fact that only 92% of "Gaucher alleles" would be detected in this study, we estimate the disease carrier frequency in the Ashkenazim of ...Continue Reading

References

Aug 1, 1979·Journal of Medical Genetics·J Goldblatt, P Beighton
Sep 1, 1979·Archives of Disease in Childhood·P HodsonP Beighton
Apr 11, 1992·Lancet·P K MistryT M Cox
Feb 1, 1992·American Journal of Medical Genetics·E SidranskyE I Ginns
Dec 1, 1991·Proceedings of the National Academy of Sciences of the United States of America·E BeutlerC West
Apr 1, 1989·Proceedings of the National Academy of Sciences of the United States of America·M OritaT Sekiya
Jul 1, 1989·Proceedings of the National Academy of Sciences of the United States of America·R R O'NeillR O Brady
Mar 5, 1987·The New England Journal of Medicine·S TsujiE I Ginns
Feb 11, 1988·Nucleic Acids Research·S A MillerH F Polesky
Apr 1, 1988·Proceedings of the National Academy of Sciences of the United States of America·S TsujiE I Ginns
Mar 1, 1986·Proceedings of the National Academy of Sciences of the United States of America·T DinurG A Grabowski
Jan 1, 1995·Blood Cells, Molecules & Diseases·E BeutlerP LeCoutre
Oct 1, 1993·British Journal of Haematology·E Beutler, T Gelbart
Jan 18, 1965·Biochemical and Biophysical Research Communications·R O BRADYD SHAPIRO

❮ Previous
Next ❯

Citations

Jun 20, 2012·Journal of Community Genetics·Jennifer G R KrombergArnold L Christianson
Apr 1, 2017·Molecular Genetics & Genomic Medicine·Melinda BarkhuizenAnne F Grobler
Sep 1, 2018·Annual Review of Genomics and Human Genetics·Amanda KrauseMichèle Ramsay
Mar 14, 2008·Human Mutation·Kathleen S HruskaEllen Sidransky
Mar 14, 1998·Baillière's Clinical Haematology·G A Grabowski, M Horowitz

❮ 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.