Parental Origin of de novo chromosome abnormalities.

从头染色体异常的父母起源。

• 批准号: 63480472
• 负责人: NIIKAWA Norio
• 金额: $ 4.16万
• 依托单位: Nagasaki University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for General Scientific Research (B)
• 财政年份: 1988
• 资助国家: 日本
• 起止时间: 1988 至 1989
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-63480472/
• 关键词: chromosome abnormality; mechanism of formation; parental origin; restriction fragment length polymorphism; nondisjunction; gene dose effect; molecular genetics; 分子遺伝学; 親起源; サザンハイブリダイゼーション

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.

利用位于靶染色体上的限制性片段长度多态性作为遗传标记，研究了新生染色体异常的父母起源和形成机制。结果表明：（1）18三体的起源是母体的，母体第1次或第2次减数分裂不分离是18三体的优先机制，与21三体的研究结果一致。(2)额外X染色体的起源是母亲的;在所有4例XXXXX或XXXXY的检查中，在母亲的第一次和第二次减数分裂中发生了三次连续的不分离，这表明存在控制人类染色体分裂的基因。(3)短暂性骨髓增生综合征（TMS）患者的21三体起源于减数分裂或有丝分裂不分离引起的一条21号染色体的重复，其异型标记均为“aab”型，提示TMS细胞中位于21号染色体上的基因为“二体纯合”。(4)所有结构异常的起源检查是父亲，除了一个案件的i（X），支持先前的假设，即起源的非罗伯逊结构异常是优先的父亲。

项目成果

Abe,Kajii,T.,Niikawa,N.: "Disomic homozygosity in 21-trisomic cells:a mechanism responsible for transient myeloproliferative syndrome." Human Genetics. 82. 313-316 (1989)

Abe，Kajii，T.，Niikawa，N.：“21 三体细胞中的二体纯合性：导致短暂性骨髓增殖综合征的机制。”

Kamei T;Hamabe J;Matsumoto T;Miikawa N: Japanese Tournal of Human Gevetics. 33. 477-486 (1988)

Kamei T；Hamabe J；Matsumoto T；Miikawa N：日本人类几何学锦标赛。

Abe K;Kajii T;Niikawa N: Human Gevetics. 1989.

Abe K；Kajii T；Niikawa N：人类几何学。

Abe,K.,Kajii,T.,Niikawa,N.: "Disomic homozygosity in 21-trisomic cells:a mechanism responsible for transient myeloproliferative syndrome." Human Genetics. 82. 313-316 (1989)

Abe,K.、Kajii,T.、Niikawa,N.：“21 三体细胞中的二体纯合性：导致短暂性骨髓增殖综合征的机制。”

Junns,Y.,Niikawa,N;et al.: "Band specific DNA library microcloned from microdissected human chromosome." Genomics.

Junns，Y.，Niikawa，N；等人：“从显微解剖的人类染色体中微克隆的条带特异性 DNA 文库。”