PMCCPMCCPMCC

Search tips
Search criteria 

Advanced

 
Logo of jmedgeneJournal of Medical GeneticsVisit this articleSubmit a manuscriptReceive email alertsContact usBMJ
 
J Med Genet. 1994 May; 31(5): 360–363.
PMCID: PMC1049865

Aspartylglucosaminuria in northern Norway: a molecular and genealogical study.

Abstract

Aspartylglucosaminuria (AGU, McKusick 208400) is an autosomal recessive lysosomal storage disorder. Ninety percent of all patients are from Finland and only sporadic cases have been reported from elsewhere. In northern Norway, however, nine patients from seven families have been diagnosed with AGU. All these Norwegian patients were homozygous for the most prevalent Finnish AGU mutation (AGUFin) and show the polymorphism uniquely associated with AGUFin in Finland. Genealogical investigation of nine parents proved Finnish ancestry in all pedigrees. Therefore, AGU in Norway most likely resulted from immigration of Finnish carriers. These Finnish immigrants originated mostly from the Tornio valley area in northern Finland in a continuous immigration movement from 1700 to 1900. The majority settled in the western part of northern Norway, leading to a "cluster" of AGU in that particular area. The Finnish immigrants intermixed considerably with Lapps and these two ethnic origins should thus be considered as high risk groups for AGUFin in northern Norway.

Full text

Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (507K), or click on a page image below to browse page by page.

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Group