| Project/Area Number |
16380188
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Applied animal science
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| Research Institution | OKAYAMA UNIVERSITY |
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Principal Investigator |
KUNIEDA Tetsuo OKAYAMA UNIVERSITY, Graduate School of Natural Science and Technology, Professor, 大学院・自然科学研究科, 教授 (80178011)
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| Co-Investigator(Kenkyū-buntansha) |
TSUJI Takehiro OKAYAMA UNIVERSITY, Graduate School of Natural Science and Technology, Assistant Professor, 大学院・自然科学研究科, 助手 (90314682)
OGAWA Hiroyuki The University of Tokyo, Graduate School of Agricultural and Life Sciences, Professor, 大学院・農学生命科学研究科, 教授 (30012016)
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| Project Period (FY) |
2004 – 2005
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| Project Status |
Completed (Fiscal Year 2005)
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| Budget Amount *help |
¥15,300,000 (Direct Cost: ¥15,300,000)
Fiscal Year 2005: ¥4,600,000 (Direct Cost: ¥4,600,000)
Fiscal Year 2004: ¥10,700,000 (Direct Cost: ¥10,700,000)
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| Keywords | Japanese beef cattle / hereditary disease / ocular anomaly / blood coagulation / factor VIII / linkage analysis / mapping / breeding / マッピング8育種 |
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| Research Abstract |
The incidence of various hereditary diseases has been reported in Japanese beef cattle and these diseases have caused serious problems for breeding and raising beef cattle. In this study, we attempted to identify causative genes and to develop DNA diagnosis systems for the following two hereditary diseases in Japanese beef cattle. 1)Multiple ocular defects is hereditary ocular disorder showing developmental defects of the lens, retina and iris, persistent embryonic eye vascularization, and microphthalmia. We mapped the locus for this disease to bovine chromosome 18 by linkage analysis. Then, we cloned and sequenced several potential candidate genes for the disorder including the MAF and FOXC2 genes, but no causative mutation for the disease was identified. However, we established the marker-assisted selection for identification of carriers of the disease by using linked markers. 2)Hemophilia A is a congenital severe bleeding disorder characterized by subcutaneous hematoma and hemorrhage into muscles resulting from a deficiency of blood coagulation factor VIII. Recently two cases of Hemophilia A were reported in Japanese brown cattle. In this study we identified a nucleotide substitution in factor VIII gene resulting in an amino acid substitution of Leusin to Histidin as a possible cause of the deficiency. We also developed a simple and effective PCR-based diagnostic method to identify carriers of this disorder, using a mismatch primer in combination with a restriction enzyme digestion. The mapping and identification of the genes responsible for these diseases provided the basis for DNA-based diagnostic systems for these diseases.
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