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.

虽然大多数病例是散发性的，但Rett综合征（RS）被认为是一种遗传性疾病，因为很少有家族性病例，并且在MZ双胞胎中存在惊人的一致性。X连锁的概念最初基于一个假定的排他性发病率在女性已被支持的母系传播在罕见的家族性病例。为了确定RS X染色体上的基因位点，选择了13个X染色体微卫星标记进行多点连锁分析。我们没有发现明显的高Lod评分。母系遗传在家族性病例中的发现激发了RS的遗传基础可能涉及线粒体DNA（mtDNA）的假设。我们对基因编码进行了详细的突变分析。我们没有发现大的缺失的证据，也没有发现线粒体DNA点突变的证据。

项目成果

Matsuish T et al: "Abnomal carbohydrate metabolism in cerebrospinal fluid in Rett syndrome" Journal of Child Neurolofy. 9. 26-30 (1994)

Matsuish T 等人：“Rett 综合征脑脊液碳水化合物代谢异常”《儿童 Neurolofy 杂志》。

Koga Y,Davidson M,Schon EA,King MP: "Defects in mitochondrial functions associated with increased levels of RNA 19 seen in MELAS AS patients and in the culture system having MELAS-3243 or-3271 mutation." Muscle Nerve. (in press). (1995)

Koga Y、Davidson M、Schon EA、King MP：“在 MELAS AS 患者和具有 MELAS-3243 或 3271 突变的培养系统中发现与 RNA 19 水平升高相关的线粒体功能缺陷。”

Komori H,Matsuishi T: "Cerebrospinal fluid biopterin and biogenic amine metabolites during oral R-THBP therapy for infantile autism." Journal of Autism and Developmental Disoders. in press. (1994)

Komori H、Matsuishi T：“口服 R-THBP 治疗婴儿自闭症期间的脑脊液生物蝶呤和生物胺代谢物。”

Ellison KA,Fill CP,Terwilliger J et al.: "Examination of X-chromosome markers in Rett syndrome : exclusion mapping with a novel variation on multilocus linkage analysis." Am J Hum Genet. 50. 278-287 (1992)

Ellison KA、Fill CP、Terwilliger J 等人：“Rett 综合征中 X 染色体标记的检查：使用多位点连锁分析的新变体进行排除图谱”。

Matsuishi T: "Decreased cerebrospinal fluid levelys of β endorphin in Japanes patients with Joseph disease" Annals of Neurology. 36. 441-443 (1994)

Matsuishi T：“日本约瑟夫病患者脑脊液中 β 内啡肽水平降低”《神经病学年鉴》36. 441-443 (1994)。