Literature DB >> 8055325

Autoimmune polyglandular disease type I. Exclusion map using amplifiable multiallelic markers in a microtiter well format.

J Aaltonen1, J Komulainen, A Vikman, A Palotie, C Wadelius, J Perheentupa, L Peltonen.   

Abstract

The pathogenetic background of human autoimmunity is only partially understood. By discovering the defective gene causing the autosomal recessive polyglandular autoimmune disease type I (PGD I, APECED) we hope to provide new insights into autoimmune responses in general. Here we have taken advantage of newly developed amplifiable multiallelic microsatellite markers and performed the analyses using the microtiter well format of the polymerase chain reaction. This rapid semiautomated protocol was applied to analyze 62 assigned highly polymorphic loci. The linkage analyses coupled with the EXCLUDE analysis resulted in an exclusion map of this polyglandular autoimmune disease and in the preliminary assignment of the APECED locus to chromosome 22. The method proved to be an effective and economical tool for gene mapping compared with standard blotting and hybridization.

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Year:  1993        PMID: 8055325

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN: 1018-4813            Impact factor:   4.246


  6 in total

Review 1.  Autoimmune polyglandular syndrome type 1.

Authors:  P Obermayer-Straub; C P Strassburg; M P Manns
Journal:  Clin Rev Allergy Immunol       Date:  2000-04       Impact factor: 8.667

2.  Neonatal induction of myelin-specific Th1/Th17 immunity does not result in experimental autoimmune encephalomyelitis and can protect against the disease in adulthood.

Authors:  Harald H Hofstetter; Andra Kovalovsky; Carey L Shive; Paul V Lehmann; Thomas G Forsthuber
Journal:  J Neuroimmunol       Date:  2007-05-04       Impact factor: 3.478

3.  Assignment of the tibial muscular dystrophy locus to chromosome 2q31.

Authors:  H Haravuori; P Mäkelä-Bengs; B Udd; J Partanen; L Pulkkinen; H Somer; L Peltonen
Journal:  Am J Hum Genet       Date:  1998-03       Impact factor: 11.025

4.  Assignment of the locus for a new lethal neonatal metabolic syndrome to 2q33-37.

Authors:  I Visapää; V Fellman; T Varilo; A Palotie; K O Raivio; L Peltonen
Journal:  Am J Hum Genet       Date:  1998-11       Impact factor: 11.025

5.  Lethal congenital contracture syndrome (LCCS), a fetal anterior horn cell disease, is not linked to the SMA 5q locus.

Authors:  K Vuopala; P Mäkelä-Bengs; A Suomalainen; R Herva; J Leisti; L Peltonen
Journal:  J Med Genet       Date:  1995-01       Impact factor: 6.318

6.  High-resolution physical and genetic mapping of the critical region for Meckel syndrome and Mulibrey Nanism on chromosome 17q22-q23.

Authors:  P Paavola; K Avela; N Horelli-Kuitunen; M Bärlund; A Kallioniemi; N Idänheimo; M Kyttälä; A de la Chapelle; A Palotie; A E Lehesjoki; L Peltonen
Journal:  Genome Res       Date:  1999-03       Impact factor: 9.043

  6 in total

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