| Project/Area Number |
12470516
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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 |
Human genetics
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| Research Institution | Shinshu University |
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Principal Investigator |
FUKUSHIMA Yoshimitsu Shinshu Univ. Sch. Med., Medical Genetics, Professor, 大学院医学系研究科, 教授 (70273084)
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| Co-Investigator(Kenkyū-buntansha) |
KOSHO Tomoki Shinshu Univ. Hospital, Assistant Professor, 医学部附属病院, 助手 (90276311)
WADA Takahito Shinshu Univ. Sch. Med., Medical Genetics, Assistant Professor, 医学部, 助手 (70359727)
WAKUI Keiko Shinshu Univ. Sch. Med., Medical Genetics, Assistant Professor, 医学部, 助手 (50324249)
MURASE Sumio Shinshu Univ. Sch. Med., Medical Genetics, Professor, 医学部, 教授 (70200285)
KUBOTA Takeo Yamanashi Univ. Sch. Med., Environment Health/Epigenetic, Professor, 医学部, 教授 (70293511)
坂爪 悟 信州大学, 医学部, 助手 (70306174)
川目 裕 信州大学, 医学部・附属病院, 助手 (60246395)
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| Project Period (FY) |
2000 – 2003
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| Project Status |
Completed (Fiscal Year 2003)
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| Budget Amount *help |
¥12,800,000 (Direct Cost: ¥12,800,000)
Fiscal Year 2003: ¥2,000,000 (Direct Cost: ¥2,000,000)
Fiscal Year 2002: ¥1,500,000 (Direct Cost: ¥1,500,000)
Fiscal Year 2001: ¥1,300,000 (Direct Cost: ¥1,300,000)
Fiscal Year 2000: ¥8,000,000 (Direct Cost: ¥8,000,000)
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| Keywords | positional cloning / chromosome abnormality / chromosome rearrangement / balanced translocation / Mendelian Cytogenetics / fluorescence in situ hybridization / FISH / DBCRs / 染色体均衡型構造異常 / 特発性思春期早発症 / FISH解析 / 染色体構造異常 / 思春期早発症 / BACクローン / ボジショナルクローニング / YAC / BAC |
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| Research Abstract |
We registered 54 patients with "disease-associated balanced chromosome rearrangements (DBCRs)". In the study of familial 21q proximal deletion [del(21)(q11.2q21.3)], the precise deleted region was identified by FISH analyses and speculated that the USH1E mapped on 21q21 is a candidate disease locus of the proband's sensorineural hearing loss (Wakui et al. 2002). In the study of severe Prader-Willi syndrome (PWS) with monosomy 15pter-15q14 and trisomy 22pter-22q11.2, the precise deletion and duplication sizes of the derivative chromosome was determined by several FISH methods. This patient had the PWS phenotype resulted from the 15q12 deletion, and some features resulted from the partial trisomy of 22q. Intrauterine growth retardation, which is unusual in either PWS and partial trisomy of 22q, was suspected to be the effects of the deletion of 15q13-q14 (Matsumura et al. 2003). In type 2 diabetes mellitus (T2DM) patient with t(3p;9q), we constructed physical maps covering both breakpoints, and detected some candidate genes around the breakpoints. We then carried out sequence analysis for all coding regions of the candidate genes in unrelated T2DM patients in order to validate whether aberrations of the gene are common in T2DM patients, but failed to detect any pathogenic changes. In a patient having precocious puberty (PP) and mental retardation with t(7q;10p), We constructed physical maps covering both breakpoints, and detected some candidate genes. We started sequence analysis of the candidate genes in unrelated PP patients. According to the collaborations using our DBCRs samples, BPESC1, mapped on 3q23, was identified as a responsible gene for Blepharophimosis sequence (BPES) using our patient with t(3;4)(q23;p15.2) (De Baere et al. 2000). And MIPOL, mapped on 14q13, was identified as a responsible gene for mirror-image polydactyly of hands and feet using our patient with t(2;14)(p23.3;q13) (Kondoh et al. 2002).
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