1998 Fiscal Year Final Research Report Summary
Application of human-pig genetic comparative mapping to pediatric surgical disease
| Project/Area Number |
09671208
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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 |
General surgery
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| Research Institution | University of Tsukuba, Institute of clinical medicine |
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Principal Investigator |
HORI Tetsuo INSTITUTE OF CLINICAL MEDICINE,DEPT OF PEDIATRTC SURGERY ASSISTANT PROFESSOR, 臨床医学系, 講師 (80173615)
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| Project Period (FY) |
1997 – 1998
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| Keywords | ANAL ATRESIA / comparative map / gene / human / pig / pediatric surgery / pig |
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| Research Abstract |
Anal Atresia (AA) is a fairly common malformation in the new-born human ; the incidence is about 1/5,000. A strikingly similar malformation occurs also in piglets ; incidence estimated at 9/5,000 in Ibaraki prefecture, Japan. A line of pigs with a very high AA incidence has been established by selective breeding. The affected animals used for breeding were derived from Landrace or Large White populations in Japan and were treated surgically soon after birth. Crossing affected parents increased the incidence from 30% (1983-1987) to presently 62%. Embryological studies have shown that the cause of this malformation is a defect of the dorsal cloacal plate during the development of the cloaca (Ikebukuro et al., 1994 Pediatr Surg Int. 9, 2). Previous segregation analysis in this closed population suggested that porcine AA is controlled by two major loci, one autosomal recessive and one autosomal dominant (Ohkawa et al., 1985 Teratology 32 : 46B).
We have generated a backcross pedigree by mating an affected female to an unaffected male from the Meishan breed in order to further investigate the genetic basis for this malformation. F_1 animals were backcrossed to affected animals from the AA line. None out of 39 F1 animals exhibited AA suggesting that at least one causative mutation is recessive, In the backcross, 29 out of 315 offspring were affected. The results of a genome scan using microsatellite markers is reported. A genome scan using only affected progeny have been initiated. So far suggestive linkage has been obtained for one chromosomal region and additional data are currently collected to confirm or reject linkage.
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