Genomewide Scan for Anal Atresia in Swine Identifies Linkage and Association With a Chromosome Region onSus scrofaChromosome 1

Abstract

Anal atresia is a rare and severe disorder in swine occurring with an incidence of 0.1-1.0%. A wholegenome scan based on affected half-sibs was performed to identify susceptibility loci for anal atresia. The analysis included 27 families with a total of 95 animals and 65 affected piglets among them. Animals were genotyped for 126 microsatellite markers distributed across the 18 autosomal porcine chromosomes and the X chromosome, covering an estimated 2080 cM. Single-point and multipoint nonparametric linkage scores were calculated using the computer package ALLEGRO 1.0. Significant linkage results were obtained for chromosomes 1, 3, and 12. Markers on these chromosomes and additionally on chromosomes for which candidate genes have been postulated in previous studies were subjected to the transmission disequilibrium test (TDT). The test statistic exceeded the genomewide significance level for adjacent markers SW1621 (P ¼ 7 3 10 ÿ7 ) and SW1902 (P ¼ 3 3 10 ÿ3 ) on chromosome 1, supporting the results of the linkage analysis. A specific haplotype associated with anal atresia that could prove useful for selection against the disorder was revealed. Suggestive linkage and association were also found for markers S0081 on chromosome 9 and SW957 on chromosome 12.

Genome-wide linkage analysis of inguinal hernia in pigs using affected sib pairs

“…Figure 1 and 2 shows the profiles of the multipoint NPL scores and the respective information content (Info) for each chromosome. The average information content was 0.52, which is a similar value to those found in previous studies in swine [ 16 ] and humans [ 17 ]. Two chromosomal regions had linkage score exceeding the nominal significance level of p < 0.001.…”

Association and haplotype analysis of candidate genes in five genomic regions linked to sow maternal infanticide in a white Duroc × Erhualian resource population

“…As in other studies [7,9], we found distinct linkage results between TDT and NPL [5]. NPL test for markers linked to genes affecting disease status on the basis of identity-by-descent, and is more powerful when the marker density is low.…”

Neonatology and Neonatal Disorders

“…[42][43][44][45] Atresia ani is believed to be inherited in cattle and pigs. 46,47 In camelids, most intestinal malformations are thought to be heritable, although true data are lacking; atresia ani has been reported anecdotally in related llamas. Some cases may also be sporadic and arise from random mutations or unidentified environmental influences; rectal palpation is not commonly Prior to attempting surgical correction, it is important to discuss the possibility of atresia coli being heritable and that the animal should probably not be used for breeding.…”