The Distribution of the Gene for the Juvenile Type of Gaucher Disease in Sweden

• Published in: Acta Paediatrica
• Main Authors: ISELIUS, L., HILLBORG, P.‐O., LINDSTEN, J.
• Format: Article in Journal/Newspaper
• Language: English
• Published: Wiley 1989
• Subjects: General Medicine; Pediatrics, Perinatology and Child Health; Arvidsjaur; Överkalix; Norrbotten
• Online Access: http://dx.doi.org/10.1111/j.1651-2227.1989.tb17942.x; https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1651-2227.1989.tb17942.x; https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1651-2227.1989.tb17942.x

ABSTRACT. A study of 30 Swedish families with the Norrbottnian type of Gaucher disease provides evidence for two clusters of the gene, one close to Överkalix in the northern part of the county of Norrbotten and the other in the vicinity of Arvidsjaur in the southern part of the same county. The gene for Gaucher disease in Överkalix appeared later than that in Arvidsjaur. A founder moving from Arvidsjaur to Överkalix during the seventeenth century or two different mutations are the most likely explanations of this finding.