CONSORTIUM-BACED LINKAGE ANALYSIS AND IDENTIFICATION OF GENES FOR SINGEL-GENE DISEASES

基于联盟的连锁分析和单基因疾病基因鉴定

• 批准号: 13854024
• 负责人: NIIKAWA Norio
• 金额: $ 72.97万
• 依托单位: NAGASAKI UNIVERSITY
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (S)
• 财政年份: 2001
• 资助国家: 日本
• 起止时间: 2001 至 2005
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-13854024/
• 关键词: linkage analysis; single-gene disorders; gene mapping; disease genes; familial cases of genetic diseases; 家族性心房中核欠損症; 多汗症; 下顎前突症; 無嗅覚症; 心房中隔欠損症; ハプロタイプ解析; 家族性側索硬化症; 無臭覚症; 緊張性四肢麻痺; 疾患遺伝子座; 単一遺伝子疾患; マイクロサテライトマーカー; 変異解析; 疾病遺伝子; WFS1遺伝子; 遺

This research aimed to collect many cases of single-gene disorders of unknown cause by a consortium from all of Japan and to map the disease loci and identify genes for the diseases. During a 5-year-period of the research, we performed linkage analysis of 14 such disorders (including genetic traits) and identified novel gene mutations in 8 disorders. The followings are the details of the diseases studied : (1)Retinitis pigmentosa : by linkage analysis, we assigned disease loci of 3 Japanese and 2 Thai families, and identified RPGR and NDP mutations, respectively ; (2)Engelmann disease : as a linkage analysis found two Engelmann disease families in which disease loci did not correspond the TGFB1 locus, we proposed the disease in the families is a new clinical entity, Engelmann disease type 2 ; (3)Familial hearing impairment : linkage analysis of a large family mapped the locus and identified a novel mutation ; (4)Van der Woude syndrome : the diseases of two families were both mapped to … More 1q32-q41, and mutations in IRF6 were identified in each family ; (5)Anosmia : we found two large Iranian families, and mapped the disease locus within a region between D18S452 and D18S475 ; (6)Familial ASD : linkage analysis of one large family led to the disease gene localization to 8p23-p22, and mutation analysis identified a one-base deletion in GATA4 ; (7)Spastic paraplegia : linkage analysis of one big family mapped the disease to 2p23 and mutation study identified a large intragenic deltion in SPG4 ; (8)Palmoplantar hyperhydrosis : linkage analysis of 11 families assigned the disease of three families to 14q11.2, but locus heterogeneity was evident ; (9)Epidermolysis bullosa : linkage and mutation analysis of one family identified a novel mutation in COL17A1 ; (10)Human earwax trait : linkage analysis mapped the earwax locus to 16p11.2-q12.1, and subsequent association study using SNPs identified a functional SNP in ABCC11 as the earwax determinant ; (11)Familial thrombocytopenia : linkage analysis mapped the disease between D17S950 and D17S1607 ; (12)Familial amyotropic lateral sclerosis : linkage analysis of one family mapped the disease to either 1p or 17q ; (13)and(14)Familial prognathism and Familial blepharoptosis : In neither diseases, disease loci were assigned, because of locus heterogeneity was evident. Less

这项研究旨在通过14种此类疾病（包含遗传特征）的IFY基因收集许多单基因的Cass。 ，我们分配了3个日本和2个泰国家族的疾病基因座，并确定了RPGR和NDP突变。 ：一个映射的基因座并确定了一个新的突变：两个家族的疾病都映射到……更多的1q32-q41，并且在每个家族中都确定了IRF6的突变。一个大家族导致疾病基因定位到8p23-p22，在GATA4中鉴定出该疾病的突变分析；三个家族到14Q11.2裂解Bullosa的疾病：一个一个家族的连锁和突变分析在Col17a1中识别出新的突变；确定性;（11）家族性血小板减少症：D17S950和D17S1607之间的疾病分析；疾病，疾病基因座被分配，基因座异性疾病是明显的

项目成果

A novel missense mutation.(E349V) in a large family with Van der Woude syndrome : Linkage and mutation studies with fingernail DNA.

范德沃德综合征大家族中的一种新型错义突变（E349V）：指甲 DNA 的连锁和突变研究。

• 发表时间: 2006
• 期刊: J Dent Res (In press)
• 作者: Matsuzawa N;Natsume N;Niikawa N;Shimozato K;Yoshiura K
• 通讯作者: Yoshiura K

Ghadami M 他: "Familial isolated congenital anosmia with morphologically normal olfactory bulb in two unrelated Iranian families : A new clinical entity?"Am J Med Genet. (In press).

Ghadami M 等人：“两个无关的伊朗家庭中具有形态正常嗅球的家族性孤立性先天性嗅觉缺失：一个新的临床实体？”Am J Med Genet（正在出版）。

Yamada T, et al.: "The novel gene, TSGA14, adjacent to the imprinted gene MEST escapes genomic imprinting"Gene. 288. 57-63 (2002)

Yamada T 等人：“与印记基因 MEST 相邻的新基因 TSGA14 逃脱了基因组印记”基因。

Kinoshita A 他: "TGFB1 mutations in four new families with Camurati-Engelmann disease : Confirmation of independently arising LAP-domain-specific mutations"Am J Med Genet. (In press).

Kinoshita A 等人：“Camurati-Engelmann 病四个新家族中的 TGFB1 突变：独立产生的 LAP 域特异性突变的确认”Am J Med Genet（正在出版）。

Peeters H 他: "PA26 is a candidate gene for heterotaxia in humans : Identification of a novel, PA26-related gene family in human and mouse"Hum Genet. 112. 573-580 (2003)

Peeters H 等人：“PA26 是人类异位症的候选基因：人类和小鼠中新型 PA26 相关基因家族的鉴定”Hum Genet. 112. 573-580 (2003)