2000 Fiscal Year Final Research Report Summary
Linkage analysis between microsatellite markers and cleft lip and/or palate in Japanese families
| Project/Area Number |
09307048
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| Research Category |
Grant-in-Aid for Scientific Research (A).
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Surgical dentistry
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| Research Institution | NIIGATA UNIVERSITY |
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Principal Investigator |
TAKAGI Ritsuo Faculty of Dentistry, NIIGATA UNIVERSITY, Professor, 歯学部, 教授 (20143795)
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| Co-Investigator(Kenkyū-buntansha) |
IIDA Akihiko Dental Hospital, NIIGATA UNIVERSITY, Assistant, 歯学部・附属病院, 助手 (30262447)
NAGATA Masaki Faculty of Dentistry, NIIGATA UNIVERSITY, Assistant, 歯学部, 助手 (10242439)
ONO Kazuhiro Faculty of Dentistry, NIIGATA UNIVERSITY, Associate Professor, 歯学部, 助教授 (40224266)
FUJITA Hajime Faculty of Dentistry, NIIGATA UNIVERSITY, Assistant, 歯学部, 助手 (60271805)
IMAI Nobuyuki Faculty of Dentistry, NIIGATA UNIVERSITY, Assistant, 歯学部, 助手 (90282988)
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| Project Period (FY) |
1997 – 2000
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| Keywords | cleft lip and / or palate / Japanese family / microsatellite / BCL3 / linkage analysis |
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| Research Abstract |
We examined linkage between candidate genes, BCL3 and nearby genes on chromosome 19, and non-syndromic cleft lip with or without cleft palate (CL/P) in Japanese families using parametric method. Nine multigenerational CL/P families were ascertained through the Second Department of Oral and Maxillofacial Surgery, Niigata University Dental Hospital. After informed consent was obtained, blood samples were drawn from 60 individuals, 20 of whom were affected, and genomic DNAs were extracted. PCR-amplified products using four microsatellite markers, D19S178, BCL3, 007/008 and AC1/AC2 located in 19q13.2, were separated by 8% polyacrylamide gel electrophoresis and visualized by silver staining. In addition, allele frequencies and heterozygosity values of four markers were analyzed for 50 healthy unrelative Japanese individuals. Two-point linkage analysis was carried out using the MLINK program of the LINKAGE package, and LOD scores were calculated for each family, assuming an autosomal dominant model of inheritance with reduced penetrance. We also tested for linkage including phenotypic information only for affected individuals in each family. Consequently, no evidence of linkage was detected at four loci in affected-only model. And assuming that penetrance for affected individuals was set alternatively at 0.8, 0.6, and 0.3, no evidence of linkage was detected within about 1 cM on both sides of D19S178, 007/008 and AC1/AC2 loci. On the other hand, the maximum LOD score for BCL3 locus was 0.206 at recombination fraction of 0 when penetrance was set at 0.999, this result indicated that linkage to candidate genes was not defined.
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