1997 Fiscal Year Final Research Report Summary
Molecular analysis of PAX2 gene in congenital renal and heart diseases
| Project/Area Number |
08670888
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | Okayama University |
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Principal Investigator |
KAMADA Masahiro Okayama University, Okayama University Hospital attached to Medical School, Assistant Professor, 医学部・附属病院, 助手 (30233927)
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| Co-Investigator(Kenkyū-buntansha) |
TERAOKA Michio Okayama University, Okayama University Hospital attached to Medical School, Seni, 医学部・附属病院, 医員
YOKOYAMA Yuji Okayama University, Okayama University Hospital attached to Medical School, Assi, 医学部・附属病院, 助手 (00240226)
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| Project Period (FY) |
1996 – 1997
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| Keywords | PAX2 / ONCR / FISH |
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| Research Abstract |
We describe a 5 year old boy with a de novo t(10 ; 13) translocation and optic nerve coloboma-renal disease (ONCR), On the basis of GTG banding analysis of prometaphase chromosomes, the patient's karyotype was interpreted as either 46, XY, t(10 ; 13)(q24.3 ; q12.3) or t(10 ; 13)(q25.2 ; q14.1). Fluorescence in situ hybridisation (FISH) studies using a YAC clone containing the PAX2 gene and YAC clones adjoining FRA10B at 10q25.2 showed that the 10q breakpoint had occurred just within the PAX2 gene and was proximal to FRA10B.These FISH results suggest that the translocation causes a disruption of the PAX2 gene and leads to ONCR, in agreement with the recent reports of PAX2 mutations in two unrelated families with 0NCR.Furthermore, we refined the regional mapping of the human PAX2 gene to the junction of bands 10q24.3 and 10q25.1.
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