DNA construction of chromosome 21 and the study of Down syndrome.

21号染色体的DNA构建和唐氏综合症的研究。

• 批准号: 62571018
• 负责人: NAKAI Hiroshi
• 金额: $ 1.15万
• 依托单位: TOHOKU UNIVERSITY
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for General Scientific Research (C)
• 财政年份: 1987
• 资助国家: 日本
• 起止时间: 1987 至 1988
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-62571018/
• 关键词: in situ hybridization; gene mapping; yeast artificial chromosome Down syndrome; Pulse field gel electrophoresis; パルスフィールド・ゲル電気泳動; 21番染色体; パルスフィールドゲル電気泳動; 遺伝子工学; 遺伝子地図; 原位雑種形成法; 巨大DNA電気泳動

1) Eleven anonymous DNA segments and two cDNA which were cloned from chromosome 21 were assigned in the chromosome by in situ hybridization. These anonymous DNA segments are single copy inserts and had been screened for restriction fragment length polymorphism (RFLP) in the DNA of unrelated humans. Among eleven probes, five were assigned to 21q22.3, two to 21q11, and the four remaining genes were assigned to 21q11-q21, 21q21, 21q21-q22.1, and a centromeric region. One of cDNAs was assigned to 21q21 and the other was to 21q22.3. Five anonymous DNA segments and one cDNA probe, therefore, were assigned to the critical region for phenotype expression of Down syndrome. These may become very important for the study of pathogenesis.2) Pulse field gel electrophoresis were applied to study a large DNA molecule cloned by means of yeast artificial chromosome (YAC) vectors. This is a preliminary report of analysing chromosome 21 DNA construction. In the initial study, DNA inserts are short as about six thousand base pairs , so that we must make effort to get more sufficient size of probes. Molecular study of chromosome 21 is necessary more for the disease.

1)用原位杂交技术将从21号染色体上克隆的11个匿名DNA片段和2个cDNA片段定位在染色体上。这些匿名DNA片段是单拷贝插入片段，并已在无关人类的DNA中进行了限制性片段长度多态性（RFLP）筛选。在11个探针中，5个被分配到21q22.3，2个被分配到21 q11，其余4个基因被分配到21 q11-q21，21 q21，21 q21-q22.1和一个着丝粒区域。其中一个cDNA位于21 q21，另一个位于21q22.3。因此，五个匿名DNA片段和一个cDNA探针被分配到唐氏综合征表型表达的关键区域。应用脉冲场凝胶电泳技术对酵母人工染色体（YAC）载体克隆的一个大分子DNA进行了研究。本文是分析21号染色体DNA结构的初步报告。在最初的研究中，DNA插入片段大约只有6000个碱基对，因此我们必须努力获得更足够大小的探针。对21号染色体的分子生物学研究更是必要的。

项目成果

I.Gozes,H.Nakai,et al,: Somatic Cell and Molecular Genetics. 13. 305-313 (1987)

I.Gozes、H.Nakai 等人：体细胞和分子遗传学。

Hiroshi Nakai,et al.: Cytogenetics and Cell Genetics. 47. 90-91 (1988)

Hiroshi Nakai 等人：细胞遗传学和细胞遗传学。

中井博史: 臨床病理. 80. 21-37 (1989)

中井宏：临床病理学。80。21-37（1989）

I.Gozes,H.Nakai er al.: Somatic Cell and Molecular Genetics. 13. 305-313 (1987)

I.Gozes、H.Nakai 等人：体细胞和分子遗传学。

Hiroshi Nakai,et al.: Acta Paediatrica Japonica. 29. 510-512 (1987)

Hiroshi Nakai 等人：《日本儿科学报》。