1989 Fiscal Year Final Research Report Summary
Parental Origin of de novo chromosome abnormalities.
| Project/Area Number |
63480472
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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 | Nagasaki University |
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Principal Investigator |
NIIKAWA Norio Nagasaki University, School of Medicine, Professor, 医学部, 教授 (00111170)
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| Co-Investigator(Kenkyū-buntansha) |
JINNO Yoshihiro Nagasaki University, School of Medicine, Instructor, 医学部, 助手 (20179097)
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| Project Period (FY) |
1988 – 1989
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| Keywords | chromosome abnormality / mechanism of formation / parental origin / restriction fragment length polymorphism / nondisjunction / gene dose effect / molecular genetics / 分子遺伝学 |
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| Research Abstract |
Parental origin and mechanism of formation of de novo chromosome abnormalities were studied with the use of restriction fragment length polymorphisms located on target chromosomes as genetic markers. The following results were obtained:
(1) The origin of trisomy 18 is of maternal; Nondisjunction at the maternal 1st or 2nd meiosis is the preferential mechanism for trisomy 18, consistent with the previous results for trisomy 21.
(2) The origin of supernumerary X chromosomes is of maternal; Three successive nondisjunctions at the maternal 1st and 2nd meioses had occurred in all of four cases of XXXXX or XXXXY examined, suggesting the presence of the gene controlling chromosome division in humans.
(3) The origin of trisomy 21 in patients with transient myeloproliferative syndrome (TMS) is the duplication of one chromosome 21 due to either meiotic or mitotic nondisjunction, and the heteromorphic markers of the chromosomes 21 are all an "aab" pattern, suggesting that the genes located on chromosomes 21 in TMS cells are "disomic homozygous".
(4) The origin of all structural abnormalities examined are of paternal, except for one case of i(X), supporting the previous hypothesis that the origin of non-Robertsonian structural abnormality is preferentially of paternal.
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[Publications] Ishikiriyama,S.,Tonoki,H.,Shibuya,Y.,Chin,S.,Harada,N.,Abe,K.,Niikawa,N.,: "Waardenburg syndrome tyueI in a child with de novo inversion(2)(q35q37.3)." American Journal of Medical Gonetics. 33. 505-507 (1989)
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「研究成果報告書概要(和文)」より
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[Publications] Kondoh, T., Tonoki, H., Matsumoto, T., Tsukahara, M., Niikawa, N.: "Origin of the extra chromosome in trisomy 18. A study on five patients using a restriction fragment length polymorphism." Human Genetics 79:377-378, 1988.
Description
「研究成果報告書概要(欧文)」より
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