A family-analysis-based search for genes susceptible to mono-, oligo- and polygenic disorders

基于家族分析寻找易受单基因、寡基因和多基因疾病影响的基因

• 批准号: 17019055
• 负责人: NIIKAWA Norio
• 金额: $ 67.97万
• 依托单位: Health Sciences University of Hokkaido (2007-2009)Nagasaki University (2005-2006)
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research on Priority Areas
• 财政年份: 2005
• 资助国家: 日本
• 起止时间: 2005 至 2009
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-17019055/
• 关键词: 染色体異常; 疾患遺伝子; 連鎖解析; 単因子疾患; 多因子疾患; 関連解析; 疾患感受性遺伝子; 因子疾患; 染色体; 多指趾症; 合指症; 歌舞伎症候群; 遺伝子単離; 特発性手掌多汗症; 一過性運動誘発性コレオアテトーシス; 染色体構造異常; 家族性心房中隔欠損症; Kabuki make-up症候群; 精神遅滞症

We tried to isolate or identify disease-related genes by genomic-medicine methods using families with monogenic, oligogenic or polygenic disorders. During a five-year period of study, we identified the gene determining human earwax type, gene responsible for a congenital cataract, and those candidate for familial Japan fever, split hands and feet, and congenital absence of nails. We mapped gene loci for primary palmar hyperhidrosis, familial blepharoptosis, cleft soft palate, familial arteriovenous malformation, paroxysmal kinesigenic choreoathetosis, and Dupuytren contracture. We also identified a novel mutation in a family with familial atrial septal defect by a candidate gene analysis. However, although chromosomal translocation breakpoints were analyzed in patients with Kabuki syndrome, congenital arhinia and type 2 diabetes mellitus, any causative genes were found.

我们试图通过基因组医学的方法，从单基因、寡基因或多基因疾病的家系中分离或鉴定疾病相关基因。在为期五年的研究中，我们确定了决定人类耳垢类型的基因，导致先天性白内障的基因，以及家族性日本热、手足分裂和先天性指甲缺失的候选基因。我们绘制了原发性手掌多汗症、家族性眼睑下垂、软腭裂、家族性动静脉畸形、阵发性运动诱发性舞蹈手足徐动症和掌腱膜挛缩症的基因位点。我们还通过候选基因分析在一个家族性房间隔缺损的家系中发现了一个新的突变。然而，尽管在歌舞伎综合征、先天性鼻畸形和2型糖尿病患者中分析了染色体易位断点，但发现了任何致病基因。

项目成果

Microarray comparative genomic hybridization (CGH)-based prenatal diagnosis for chromosome abnormalities using cell-free fetal DNA in amniotic fluid

• DOI: 10.1007/s10038-006-0376-7
• 发表时间: 2006-01-01
• 期刊: JOURNAL OF HUMAN GENETICS
• 影响因子: 3.5
• 作者: Miura, Shoko;Miura, Kiyonori;Ishimaru, Tadayuki
• 通讯作者: Ishimaru, Tadayuki

Genome-wide linkage analysis and mutation analysis of hereditary congenital blepharoptosis in a Japanese family

• DOI: 10.1007/s10038-007-0214-6
• 发表时间: 2008-01-01
• 期刊: JOURNAL OF HUMAN GENETICS
• 影响因子: 3.5
• 作者: Nakashima, Mitsuko;Nakano, Motoi;Yoshiura, Koh-ichiro
• 通讯作者: Yoshiura, Koh-ichiro

Quantitative SAR analysis and molecular dynamics simulation to functionally validate nonsynonymous polymorphisms of human ABC transporter ABCB1

定量 SAR 分析和分子动力学模拟功能验证人类 ABC 转运蛋白 ABCB1 的非同义多态性

• 发表时间: 2007
• 期刊: J Biochem 46(26)
• 作者: Sakurai A;Onishi Y;Hirano H;Seigneuret M;Obanayama K;Kim GW. Liew EL;Sakaeda T;Yoshiura K;Niikawa N;Sakurai M;Ishikawa T
• 通讯作者: Ishikawa T

Analysis of the NSD1 promoter region in patients with a Sotos syndrome phenotype.

Sotos 综合征表型患者 NSD1 启动子区域的分析。

• 发表时间: 2006
• 期刊: J Hum Genet 51(1)
• 作者: Visser R;Hasegawa T;Niikawa N;Matsumoto N
• 通讯作者: Matsumoto N

Cell-free DNA as a more sensitive molecular marker for evaluation of fetal-maternal hemorrhage than cell-free mRNA

与无细胞 mRNA 相比，无细胞 DNA 作为评估胎儿-母体出血更敏感的分子标记

• 发表时间: 2006
• 期刊: Clinical Chemistry 52
• 作者: Miura;K.;Yoshiura;K.;Miura;S.;Yamasaki;K.;Yoshida;A.;Shimada;T.;Fujimoto;Y.;Nakayama;D.;Ishimaru;T.;Wagstaff;J.;Niikawa N;Masuzaki;J
• 通讯作者: J