| Project/Area Number |
62480428
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| Research Category |
Grant-in-Aid for General Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Research Field |
Human genetics
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| Research Institution | National Children's Hospital, Children's Medical Research Center |
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Principal Investigator |
NAKAGOME Yasuo National Children's Hospital, Children's Medical Research Center, Department of Congenital Abnormalities Research, Director, 小児医療研究センター・先天異常研究部, 部長 (30000235)
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| Co-Investigator(Kenkyū-buntansha) |
NIHEI Kenji National Children's Hospital, Division of Neurology, Head., 神経科, 医長
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| Project Period (FY) |
1987 – 1989
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| Project Status |
Completed (Fiscal Year 1989)
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| Budget Amount *help |
¥6,000,000 (Direct Cost: ¥6,000,000)
Fiscal Year 1989: ¥1,000,000 (Direct Cost: ¥1,000,000)
Fiscal Year 1988: ¥2,000,000 (Direct Cost: ¥2,000,000)
Fiscal Year 1987: ¥3,000,000 (Direct Cost: ¥3,000,000)
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| Keywords | DNA polymorphism / RFLP / Gene mapping / Human race / Mini satellite / VNTR |
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| Research Abstract |
1) . A novel RFLP probe, 87-10a, is developed. It is mapped to Xq26-q28 region and detects RFLPs with 6 different restriction enzymes, TaqI, BamHI, HindIII, PstI, PvuII and XbaI.
2) . Two new RFLPs are described using the 47z probe which has not been known to be polymorphic. An X-polymorphism is detected in Japanese, Caucasians and Negroes, however, Y polymorphism was detected only in Japanese males. 3). The pHY10 is a probe cloned from the DYZl repeating-DNA family on the long arm of a Y chromosome. The use of it in combination with TaqI digestion revealed, to our surprise, a novel, mini-satellite-like polymorphism in both males and females. It was found useful in the distinction of mono- and di-zygotic twin pairs. 4). A probe known to detect RFLP in Finnish failed to detect RFLPs in Japanese, Caucasian (USA) and Negroes. 5). About 10% of RFLPs described among Caucasian population were not detected among Japanese. 6) An attempt to map spastic paraplegia was briefly described. 7). An experience in Japanese patient with hemophilia A revealed that in about 90% f the families, carrier detection was possible with 5-RFLP probes. 8). RFLP techniques were also applied in the determination of structural rearrangements of both autosomes and sex chromosomes. 9). An RFLP within the oncogene N-myc was described and allele frequencies were determined.
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