X-LINKED MENTAL RETARDATION--LINKAGE & CLINICAL STUDIES

X连锁智力低下--LINKAGE

• 批准号: 2199868
• 负责人: HERBERT A LUBS
• 金额: $ 30.23万
• 依托单位: UNIVERSITY OF MIAMI SCHOOL OF MEDICINE
• 依托单位国家: 美国
• 财政年份: 1990
• 资助国家: 美国
• 起止时间: 1990-07-01 至 1996-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/2199868
• 关键词: female; gene expression; genetic counseling; genetic markers; human genetic material tag; human population genetics; human subject; linkage mapping; magnetic resonance imaging; male; mental disorder diagnosis; mental retardation; neuropsychological tests; prenatal diagnosis; sex linked trait

X-linked mental retardation (XLMR) constitutes a major cause of mental retardation in males. Although significant progress has been made in the last decade in understanding the Fragile X, little is known of the remaining X-linked disorders which collectively cause 60-70% of XLMR. Although 27 entities are documented in the present proposal, most families with XLMR remain without a specific diagnosis. Although suggestive X- chromosomal localizations have been reported for a few of these disorders in only one instance has the lod score reached significance. In general, direct laboratory diagnosis or prenatal diagnosis is not available for these families. The present investigation is designed to ascertain families with X-linked mental retardation (excluding Fragile X families), and to map as many of these disorders as possible using DNA probes and high resolution chromosome studies. This study will, therefore, contribute significantly to the linkage map of the X chromosome. Improved prenatal diagnosis for many of these disorders will also be a likely outcome. It is also designed to determine whether certain of these clinical descriptions in fact, represent the same disorder, and whether unusual genetic mechanisms are operative in this group of families. A combination of clinical, neuropsychological, MR imaging, and other studies will be utilized to further define the clinical and behavioral phenotypes of these disorders. Overall, the study is planned to ascertain and characterize 40-45 families in 5 years.

X连锁的智力低下（XLMR）构成了精神的主要原因 男性迟缓。 尽管在 在理解脆弱X的最后十年中，对 剩余的X连锁疾病共同导致60-70％的XLMR。 尽管本提案中有27个实体，但大多数家庭 XLMR保留，没有特定的诊断。 虽然暗示性x- 已经报道了其中一些疾病的染色体定位 在一个实例中，LOD得分具有显着性。 一般来说， 直接实验室诊断或产前诊断不可用 这些家庭。 本研究旨在确定具有X连锁的家庭 智力低下（不包括脆弱的X家族），并尽可能多地图 这些疾病使用DNA探针和高分辨率染色体尽可能 研究。 因此，这项研究将对 X染色体的链接图。 改善了许多许多人的产前诊断 这些疾病也可能是一个可能的结果。 它也被设计为 确定这些临床描述中的某些实际上是否代表 同样的疾病，以及异常的遗传机制在 这群家庭。 临床，神经心理学的组合，MR 成像和其他研究将用于进一步定义临床 和这些疾病的行为表型。 总体而言，这项研究是 计划在5年内确定和特征40-45个家庭。