Aspartylglucosaminuria in northern Norway: a molecular and genealogical study.
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....
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1994
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fthighwire:oai:open-archive.highwire.org:jmedgenet:31/5/360 2023-05-15T17:42:27+02:00 Aspartylglucosaminuria in northern Norway: a molecular and genealogical study. Tollersrud, O K Nilssen, O Tranebjaerg, L Borud, O 1994-05-01 00:00:00.0 text/html http://jmg.bmj.com/cgi/content/short/31/5/360 https://doi.org/10.1136/jmg.31.5.360 en eng BMJ Publishing Group Ltd http://jmg.bmj.com/cgi/content/short/31/5/360 http://dx.doi.org/10.1136/jmg.31.5.360 Copyright (C) 1994, BMJ Publishing Group Ltd Research Article TEXT 1994 fthighwire https://doi.org/10.1136/jmg.31.5.360 2013-05-26T12:40:50Z 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. Text Northern Finland Northern Norway HighWire Press (Stanford University) Norway Tornio ENVELOPE(24.147,24.147,65.848,65.848) Journal of Medical Genetics 31 5 360 363 |
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HighWire Press (Stanford University) |
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fthighwire |
language |
English |
topic |
Research Article |
spellingShingle |
Research Article Tollersrud, O K Nilssen, O Tranebjaerg, L Borud, O Aspartylglucosaminuria in northern Norway: a molecular and genealogical study. |
topic_facet |
Research Article |
description |
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. |
format |
Text |
author |
Tollersrud, O K Nilssen, O Tranebjaerg, L Borud, O |
author_facet |
Tollersrud, O K Nilssen, O Tranebjaerg, L Borud, O |
author_sort |
Tollersrud, O K |
title |
Aspartylglucosaminuria in northern Norway: a molecular and genealogical study. |
title_short |
Aspartylglucosaminuria in northern Norway: a molecular and genealogical study. |
title_full |
Aspartylglucosaminuria in northern Norway: a molecular and genealogical study. |
title_fullStr |
Aspartylglucosaminuria in northern Norway: a molecular and genealogical study. |
title_full_unstemmed |
Aspartylglucosaminuria in northern Norway: a molecular and genealogical study. |
title_sort |
aspartylglucosaminuria in northern norway: a molecular and genealogical study. |
publisher |
BMJ Publishing Group Ltd |
publishDate |
1994 |
url |
http://jmg.bmj.com/cgi/content/short/31/5/360 https://doi.org/10.1136/jmg.31.5.360 |
long_lat |
ENVELOPE(24.147,24.147,65.848,65.848) |
geographic |
Norway Tornio |
geographic_facet |
Norway Tornio |
genre |
Northern Finland Northern Norway |
genre_facet |
Northern Finland Northern Norway |
op_relation |
http://jmg.bmj.com/cgi/content/short/31/5/360 http://dx.doi.org/10.1136/jmg.31.5.360 |
op_rights |
Copyright (C) 1994, BMJ Publishing Group Ltd |
op_doi |
https://doi.org/10.1136/jmg.31.5.360 |
container_title |
Journal of Medical Genetics |
container_volume |
31 |
container_issue |
5 |
container_start_page |
360 |
op_container_end_page |
363 |
_version_ |
1766144303075164160 |