Linkage analysis of the X chromosome in Rett syndrome

Rett综合征X染色体连锁分析

• 批准号: 06670844
• 负责人: MATSUISHI Toyojiro
• 金额: $ 1.34万
• 依托单位: Kurume 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: 1994
• 资助国家: 日本
• 起止时间: 1994 至 1995
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-06670844/
• 关键词: Rett Syndrome; linkage analysis; X chromosome; mitochondria; neuropeptide; 常染色体; ミトコンドリア・ゲノム

Although most cases are sporadic, Rett syndrome (RS) is considered a genetic disorder, because there have been few familial cases and there is striking concordance in MZ twins. The concept of X linkage initially based on a presumed exclusive incidence in females has been supported by maternal lineage transmission in rare familial cases. To determine any gene loci on the X chyomosome in RS,thirteen of the X chromosome micro satellite markers were chosen for multipoint linkage analysis. We found no significant high Lod score. Maternal inheritance discoverd in familial cases has fueled the hypothesis that a genetic basis for RS may involve mitochondrial DNA (mtDNA). We have undertaken a detailed mutation analysis of the gene coding. We found no evidence for large delections, and no evidence of point mutations in mtDNA.

尽管大多数病例是零星的，但RETT综合征（RS）被认为是一种遗传疾病，因为很少有家族病例，并且MZ双胞胎中的一致性令人震惊。最初是基于女性中推测的独家发病率的X链接的概念得到了极少数家族案例的母体血统传播的支持。为了确定Rs中X Chyomosom的任何基因基因座，选择了13个X染色体微型卫星标记以进行多点连接分析。我们发现没有明显的高LOD得分。在家族案例中发现的母体遗传性推动了这样的假设，即RS的遗传基础可能涉及线粒体DNA（mtDNA）。我们已经对基因编码进行了详细的突变分析。我们没有发现大疫苗的证据，也没有证据表明mtDNA中的点突变。

项目成果

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