title: Genetic and demographic aspects of Nova Scotia Niemann-Pick disease (type D).
abstract: All known cases of Nova Scotia Niemann-Pick Disease (type D) were traced to a couple born in Nova Scotia in the late 1600s. It is speculated that this disease is the result of a single mutation in one of the ancestors of Yarmouth County French Acadians. In the district where most affected children lived, the heterozygote frequency was estimated to be between 10% and 26%.
mesh_terms: D003201:Computers; D003241:Consanguinity; D005260:Female; D005787:Gene Frequency; D014644:Genetic Variation; D006801:Humans; D008297:Male; D009542:Niemann-Pick Diseases / Q000235:genetics*; D009674:Nova Scotia; D010375:Pedigree; D012744:Sex Ratio