PMID: 11343318May 9, 2001Paper

Segregation analysis of Scheuermann disease in ninety families from Siberia

American Journal of Medical Genetics
T I AxenovichP M Borodin

Abstract

Scheuermann disease [OMIM number 181440] is the most common cause of structural kyphosis in adolescence. Segregation analysis using a model with gender effects was applied to 90 pedigrees from Barnaul (West Siberia, Russia) ascertained through a proband with Scheuermann disease. The transmission probability model was used to detect major gene effect. A significant contribution of a major gene to the control of the pathology was established. Inheritance of the disease can be described within the framework of a dominant major gene diallele model. According to this model, Scheuermann disease should never occur in the absence of the mutant allele. All male carriers of the mutant allele develop the disease, while only a half of female carriers manifest it. We found a high frequency of idiopathic scoliosis in the families with Scheuermann disease (0.08 vs. 0.01-0.02 in general population). We also observed a succession of idiopathic scoliosis and Scheuermann disease in consecutive generations. The familial aggregation of these two spinal pathologies in the present sample may indicate a genetic unity of Scheuermann disease and idiopathic scoliosis.

References

Oct 1, 1977·Clinical Genetics·C Cannings, E A Thompson
Jan 1, 1992·Journal of Medical Genetics·L McKenzie, D Sillence
Jun 1, 1989·Journal of Medical Genetics·A FindlayJ M Connor
Jan 1, 1971·Human Heredity·R C Elston, J Stewart
Mar 1, 1980·AJR. American Journal of Roentgenology·A J Bjersand
Mar 20, 1999·Current Opinion in Pediatrics·R M AliT C Patel
Jul 7, 1999·The Orthopedic Clinics of North America·T G Lowe
Jan 15, 2000·Spine·D R Wenger, S L Frick
Nov 1, 1954·The Journal of Bone and Joint Surgery. British Volume·D W LAMB

❮ Previous
Next ❯

Citations

Feb 28, 2008·European Spine Journal : Official Publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society·E FotiadisK Akritopoulou
Dec 24, 2010·BMC Genetics·Amanda K Lindholm-PerryDan J Nonneman
Jan 29, 2011·BMC Genetics·Kristen F GormanFelix Breden
May 30, 2015·Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·G ArmbrechtUNKNOWN European Vertebral Osteoporosis Study and European Prospective Osteoporosis Study Groups
Sep 8, 2011·Acta Orthopaedica·Frank DamborgKarsten Thomsen
Apr 6, 2006·American Journal of Medical Genetics. Part a·Nancy H MillerAlexander F Wilson

❮ 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.

© 2021 Meta ULC. All rights reserved