| Project/Area Number |
10470343
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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 |
Obstetrics and gynecology
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| Research Institution | NIIGATA UNIVERSITY |
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Principal Investigator |
TANAKA Kenichi NIIGATA UNIVERSITY, DEPARTMENT OF OBSTETRICS AND GYNECOLOGY, PROFESSOR AND CHAIRMAN, 医学部, 教授 (10126427)
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| Co-Investigator(Kenkyū-buntansha) |
AOKI Yoichi NIIGATA UNIVERSITY, DEPARTMENT OF OBSTETRICS AND GYNECOLOGY, LECTURER, 医学部, 講師 (40231774)
KURABAYASHI Takumi NIIGATA UNIVERSITY, DEPARTMENT OF OBSTETRICS AND GYNECOLOGY, LECTURER, 医学部, 講師 (80234540)
TAKAKUWA Koichi NIIGATA UNIVERSITY, DEPARTMENT OF OBSTETRICS AND GYNECOLOGY, ASSOCIATED PROFESSOR, 医学部, 助教授 (80187939)
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| Project Period (FY) |
1998 – 1999
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| Project Status |
Completed (Fiscal Year 1999)
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| Budget Amount *help |
¥8,100,000 (Direct Cost: ¥8,100,000)
Fiscal Year 1999: ¥2,500,000 (Direct Cost: ¥2,500,000)
Fiscal Year 1998: ¥5,600,000 (Direct Cost: ¥5,600,000)
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| Keywords | FAMILIAL OVARIAN CANCER / BRCA1 / non parametric linkage / 癌抑制遺伝子 |
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| Research Abstract |
We found 18 individual germ line mutations in 33 familial ovarian cancer families including 16 site-specific ovarian cancer families and 17 breast ovarian cancer families. The majority of mutations were non-sense mutations ; 16 of 18 mutations were consisted with twelve frame shifts, six stop codon mutations, and two missense mutations causing a loss of zinc-binding motif or splice aberration. Interesting to note, two BRCA1 mutations appear to be unique to Japanese people, since T307A and C2919T were found 9 and 7 families, respectively.
In this experiments, we tried to detect responsible chromosomal regions from 34 familial ovarian cancer families in which no BRCA1 mutation was detected by non-parametric linkage analysis using 400 micro satellite markers covering whole human genomes including X gene.
As a results, both of analytical soft, two point analysis : GENE HUNTER and multipoint analysis : SIBPAL expressed high scores in 3 regions ; 2p12-q22 ( NPL score=2.01, p value=0.0002),8q22-24 ( NPL=2.07, p value=0.0025) and 16p12 ( NPL score=2.03, p value 0.0001).
In next step, we are going to isolate response gene from these 3 regions by case controlled association study using high resolution single nucleotide polymorphism.
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