The Gene Frequency of Acute Werdnig-Hoffmann Disease (SMA Type 1). A Total Population Survey in North-East England
Open Access
- 1 September 1973
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 10 (3), 260-265
- https://doi.org/10.1136/jmg.10.3.260
Abstract
A retrospective total population study of acute Werdnig-Hoffmann disease (spinal muscular atrophy type 1) has been undertaken in three counties of North-East England (Northumberland, Newcastle upon Tyne, and Durham). The gene frequency for the disease is q=0·00625 with a carrier frequency for this part of the English population of 1 in 80. The data suggest that there may be differences in gene frequency within the region sampled, a finding in keeping with other investigations of variations in gene frequency in this region. The suggestion that this disease is the second most common fatal autosomal recessive disease of childhood in Britain is confirmed. An hypothesis of heterozygote advantage due to relative resistance to epidemic poliomyelitis is presented to account for the high gene frequency observed.Keywords
This publication has 12 references indexed in Scilit:
- A new genetic variant of the spinal muscular atrophies in infancy.Journal of Medical Genetics, 1972
- Adenosine deaminase (ADA) polymorphism in Northern EnglandHuman Genetics, 1972
- The nosology of the spinal muscular atrophies.Journal of Medical Genetics, 1971
- The Genetic Component in Child MortalityArchives of Disease in Childhood, 1970
- Norms for Four Standard Developmental Milestones by Sex, Social Class and Place in FamilyDevelopmental Medicine and Child Neurology, 1969
- A genetic study of fibrocystic disease of the pancreasAnnals of Human Genetics, 1965
- MATERNITY IN NEWCASTLE UPON TYNE A COMMUNITY STUDYThe Lancet, 1963
- Amino Acid Metabolism in Mammalian Cell CulturesScience, 1959
- Protection Afforded by Sickle-cell Trait Against Subtertian Malarial InfectionBMJ, 1954
- An analysis of the ABO Blood-Group records of the North of EnglandHeredity, 1953