不明原因智力迟钝中隐匿性染色体异常的检测：一种使用高变亚端粒DNA多态性的通用策略。
Detection of cryptic chromosomal abnormalities in unexplained mental retardation: a general strategy using hypervariable subtelomeric DNA polymorphisms.
作者信息
Wilkie A O
机构信息
Institute of Medical Genetics, University Hospital of Wales, Cardiff, United Kingdom.
出版信息
Am J Hum Genet. 1993 Sep;53(3):688-701.
Abstract
Given the availability of DNA from both parents, unusual segregation of hypervariable DNA polymorphisms (HVPs) in the offspring may be attributable to deletion, unbalanced chromosomal translocation, or uniparental disomy. The telomeric regions of chromosomes are rich in both genes and hypervariable minisatellite sequences and may also be particularly prone to cryptic breakage events. Here I describe and analyze a general approach to the detection of subtelomeric abnormalities and uniparental disomy in patients with unexplained mental retardation. With 29 available polymorphic systems, approximately 50%-70% of these abnormalities could currently be detected. Development of subtelomeric HVPs physically localized with respect to their telomeres should provide a valuable resource in routine diagnostics.
摘要
鉴于双亲的DNA均可用，后代中高变DNA多态性（HVP）的异常分离可能归因于缺失、不平衡染色体易位或单亲二体。染色体的端粒区域富含基因和高变微卫星序列，也可能特别容易发生隐匿性断裂事件。在此，我描述并分析了一种用于检测不明原因智力迟钝患者亚端粒异常和单亲二体的通用方法。利用29个可用的多态系统，目前大约50%-70%的这些异常能够被检测到。相对于端粒进行物理定位的亚端粒HVP的开发应能为常规诊断提供宝贵资源。
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