The distribution of the gene for the juvenile type of Gaucher disease in Sweden.
A study of 30 Swedish families with the Norrbottnian type of Gaucher disease provides evidence for two clusters of the gene, one close to Overkalix 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 Overkalix appeared later than that in Arvidsjaur. A founder moving from Arvidsjaur to Overkalix during the seventeenth century or two different mutations are the most likely explanations of this finding.
CRC Research Group in Genetic Epidemiology, Southampton General Hospital, UK.
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L
Iselius
P O
PO
Hillborg
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J
Lindsten
D005260:Female; D005776:Gaucher Disease / Q000145:classification / Q000453:epidemiology / Q000235:genetics*; D005787:Gene Frequency; D006579:Heterozygote; D006801:Humans; D008297:Male; D013548:Sweden