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.

使用位于靶染色体上的限制片段长度多态性作为遗传标记，研究了从头染色体异常形成的父母起源和机理。获得了以下结果：（1）三体三体的起源是母体；母体第一或第二个减数分裂的非分离是三体术的优先机制，与先前的三体疾病结果一致。在XXXXX或XXXXY的四例中，出现了三个连续的非分辨率，在XXXXX或XXXXY中都发生了三个连续的，这表明人类中控制染色体的基因控制了基因。 TMS）是由于减数分裂或有丝分裂非分离而导致的一个染色体21的重复，而染色体21的异态标记都是“ AAB”模式，这表明TMS细胞中染色体上的基因位于TMS细胞中的基因是“杀死性的”。 （4）除了I（x）的一种情况外，所检查的所有结构异常的起源都是父亲的，它支持了先前的假设，即非罗伯逊主义结构异常的起源优先是父亲。

项目成果

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

Abe K；Kajii T；Niikawa N：人类几何学。

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。

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。”

阿部京子、新川詔夫: "「新しい素材とマーカープローブ」" 共立出版, (1989)

Kyoko Abe、Akio Shinkawa：“新材料和标记探针”Kyoritsu Shuppan，（1989）