Epidemiological and Genetic Research of Congenital Malformations
| Project/Area Number |
03670693
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| Research Category |
Grant-in-Aid for General Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Research Field |
Orthopaedic surgery
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| Research Institution | Tohoku University |
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Principal Investigator |
OKA Ichirou Tohoku University, School of Medicine, Assistant, 医学部・附属病院, 助手 (80004878)
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| Co-Investigator(Kenkyū-buntansha) |
KAMIYA Noriaki Tohoku University, School of Medicine, Assistant, 医学部・附属病院, 助手 (50204631)
FUJITA Shinya Tohoku University, School of Medicine, Associate Professor, 医学部・附属病院, 助教授 (70004819)
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| Project Period (FY) |
1991 – 1993
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| Project Status |
Completed (Fiscal Year 1993)
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| Budget Amount *help |
¥1,700,000 (Direct Cost: ¥1,700,000)
Fiscal Year 1993: ¥300,000 (Direct Cost: ¥300,000)
Fiscal Year 1992: ¥300,000 (Direct Cost: ¥300,000)
Fiscal Year 1991: ¥1,100,000 (Direct Cost: ¥1,100,000)
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| Keywords | Congenital Malformations / Cleft Lip And Palate / Representation System / Classification / Inheritance / Familial Incidence / 唇裂,口蓋裂 / 体表奇形 / 疫学 |
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| Research Abstract |
1. Three-Dimensional-Coordinate Cleft Lip and Palate Representation System
All the conditions of cleft lip and palate can be regarded as combinations of three clefts, i.e., clefts on right and left sides of primary palate and cleft on secondary palate, having different degrees of severity. So, the authors have developed a method of describing the conditions as three-dimensional coordinates. A total of 526 cases treated at Tohoku University Hospital were cataloged by this new representation system. In accordance with the distribution of the cases in three-dimensional space, the authors divided them into three groups, i.e., lip-cleft group, lip-palate-cleft group and ; palate-cleft group.
2. Family Study and the Mode of Inheritance in Cleft Lip and Palate
The autors examined the relatives of 526 affected cases. On comparison of the cleft group of propositi with the cleft group of affected relatives, the lip-cleft group and the lip-palate-cleft group were considered one genetical entity 'cleft lip', and the palate cleft group was considered an indipendent disease' cleft palate'. Both in cleft lip and cleft palate, the incidence in the general population and the incidence among relatives of propositi agreed with the model of 'multifactorial inheritance with threshould'.
3. Sex Ratio of Ceft Lip
Although lip-cleft and lip-palate-cleft were considered one entity 'cleft lip', they had significant difference in their sex ratio. Authors set forth a hypothesis that 'lip-palate-cleft was comlete lip-cleft secondary accompanied by palate-cleft, and male cases were easily accompanied by palate-cleft but female cases were not'. And they presented that the hypothesis could explain the sex ratio difference.
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Report
(4 results)
Research Products
(7 results)
