HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Genetic analysis of anal atresia in pigs: evidence for segregation at two main loci.

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.
AuthorsPamela Cassini, Alberto Montironi, Sara Botti, Tetsuo Hori, Haruo Okhawa, Alessandra Stella, Leif Andersson, Elisabetta Giuffra
JournalMammalian 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
PMID15834633 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Topics
  • Animals
  • Anus, Imperforate (genetics)
  • Chromosome Mapping
  • Chromosome Segregation
  • Crosses, Genetic
  • Female
  • Genetic Linkage
  • Humans
  • Male
  • Sus scrofa (genetics)

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: