2005 Fiscal Year Final Research Report Summary
The role of Gli2 gene analysis in anal atresia with natural occurring pig model
| Project/Area Number |
16591781
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Pediatric surgery
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| Research Institution | University of Tsukuba |
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Principal Investigator |
HORI Tetsuo University of Tsukuba, Graduate School of Comprehensive Human Sciences, Associate Professor, 大学院・人間総合科学研究科, 助教授 (80173615)
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| Project Period (FY) |
2004 – 2005
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| Keywords | anal atresia / gene / Gli2 / linkage / Chr15 / Chr9 / multifactorial / polygenic |
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| Research 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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