Arthrogryposis multiplex congenita (AMC), a hereditary disease in swine, maps to Chromosome 5 by linkage analysis

Genini, Sem ; Malek, Massoud ; Špilar, Špela ; Nguyen, Trung ; Ménétrey, Frédéric ; Gebert, Stefen ; Hagger, Christian ; Neuenschwander, Stefan ; Kadarmideen, Haja ; Stranzinger, Gerald ; Vögeli, Peter

In: Mammalian Genome, 2004, vol. 15, no. 11, p. 935-941

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    Arthrogryposis multiplex congenita (AMC), defined as permanent joint contractures present at birth, is one of the most common congenital defects in piglets and other mammals. A genetic form of arthrogryposis was recently identified in Swiss Large White (LW) pigs. The disease is controlled by a single autosomal recessive allele designated as amc. At least 14 LW AI (artificial insemination) boars (about 25% of the Swiss population) are known to be carriers of the amc allele. A total of 219 pigs were used for linkage analysis, including seven founders (F1), three F0, 160 F2, and 49 F3 animals. All founder pigs were full or half sibs. Of the 219 pigs, 41 (18.7%) were found to be affected, while the remaining 178 (81.3%) were healthy. A comprehensive genome scan revealed that microsatellite SW1987 located on pig (Sus scrofa) Chromosome 5 (SSC5), was linked with AMC. Sixteen additional SSC5 microsatellites were selected for further genotyping to generate a multipoint map covering the AMC region. Significant pairwise linkage (LOD > 6.00) was found for AMC and eight marker loci. The order that best fit with the data was SW963-SW1987-SW152-AMC-(SW904, SW1094)-SWR1526-(SWR1974, SW310). AMC was mapped by linkage analysis to the position 92cM, between SW152 and SW904/SW1094, which are located on SSC5 in bands q12-q23