X-LINKED MENTAL RETARDATION--LINKAGE & CLINICAL STUDIES

X连锁智力低下--LINKAGE

• 批准号: 3327605
• 负责人: HERBERT A LUBS
• 金额: $ 30.77万
• 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 1995-02-28
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/3327605
• 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连锁精神发育迟滞（XLMR）是精神发育迟滞的主要原因。 男性发育迟缓。 虽然在这方面取得了重大进展， 在过去的十年里，在理解脆性X的过程中， 其余的X连锁疾病共同导致60-70%的XLMR。 虽然本提案记录了27个实体，但大多数家庭 XLMR仍然没有具体的诊断。 尽管暗示性的X- 这些疾病中的一些已经报道了染色体定位 只有一个实例的LOD得分达到显著性。 总的来说， 直接的实验室诊断或产前诊断是不可用的， 这些家庭。 本研究旨在确定X连锁遗传的家系， 精神发育迟滞（不包括脆性X家族），并绘制尽可能多的 这些疾病尽可能使用DNA探针和高分辨率染色体 问题研究 因此，这项研究将大大有助于 X染色体的连锁图谱。 改善产前诊断， 这些疾病也将是可能的结果。 它还旨在 确定这些临床描述中的某些实际上是否代表 同样的疾病，以及不寻常的遗传机制是否在 这群家庭。 结合临床，神经心理，磁共振 影像学和其他研究将用于进一步确定临床 以及这些疾病的行为表型。 总的来说，这项研究 计划在5年内查明40-45个家庭的情况并确定其特征。