Abstract |
Anal atresia is a relatively common congenital malformation that occurs in about 1 out of 5000 infants, caused by abnormal hindgut development of the embryo, often associated with other developmental anomalies (e.g., Currarino, Townes-Brock, Pallister-Hall syndromes, and VATER association). Genetic analysis in human families is exceedingly difficult due to the multifactorial nature of the trait. In pigs, anal atresia occurs at a higher incidence (0.18%) than in humans. A complete genome scan (165 microsatellite markers) was performed using a backcross pedigree previously obtained by crossing affected animals from a partially inbred line, selected for a high incidence of anal atresia, with an unaffected male of a different breed (Meishan). The data set was analyzed with classical linkage (TWOPOINT) and nonparametric genetic methods (NPL, Non-Parametric Linkage, and TDT, Transmission Disequilibrium Test). Both methods support association of the trait with two loci on Chromosomes 9 and 15. GLI2 (GLI-Kruppel family member GLI2) was identified as a positional candidate gene based on comparative mapping; radiation hybrid mapping confirmed that this locus is located within the QTL region.
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Authors | Pamela Cassini, Alberto Montironi, Sara Botti, Tetsuo Hori, Haruo Okhawa, Alessandra Stella, Leif Andersson, Elisabetta Giuffra |
Journal | Mammalian genome : official journal of the International Mammalian Genome Society
(Mamm Genome)
Vol. 16
Issue 3
Pg. 164-70
(Mar 2005)
ISSN: 0938-8990 [Print] United States |
PMID | 15834633
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Topics |
- Animals
- Anus, Imperforate
(genetics)
- Chromosome Mapping
- Chromosome Segregation
- Crosses, Genetic
- Female
- Genetic Linkage
- Humans
- Male
- Sus scrofa
(genetics)
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