人类遗传性突变在体内恢复正常。
In vivo reversion to normal of inherited mutations in humans.
作者信息
Hirschhorn R
机构信息
Medicine, Cell Biology & Pediatrics, New York University School of Medicine, 550 First Ave CD612, New York, NY 10016, USA.
出版信息
J Med Genet. 2003 Oct;40(10):721-8. doi: 10.1136/jmg.40.10.721.
Abstract
There are increasing reports of multiple different types of somatic mosaicism detected in patients with inherited and non-inherited disorders. The characteristics of several of the major types of mosaicism will be outlined, and contrasted with somatic mosaicism, which is the focus of this article. This review examines examples of somatic mosaicism due to differences in DNA sequence arising from in vivo site specific reversion to normal of inherited mutations in humans. While several known mechanisms of reversion are evident in a number of these examples, they are not in some others. The possible significance of the role of selection, particularly in view of recent results of gene therapy, is discussed.
摘要
在患有遗传性和非遗传性疾病的患者中，检测到多种不同类型体细胞镶嵌现象的报告越来越多。本文将概述几种主要镶嵌类型的特征，并与体细胞镶嵌现象进行对比，体细胞镶嵌现象是本文的重点。本综述研究了由于人类体内遗传性突变向正常的位点特异性回复导致的DNA序列差异所引起的体细胞镶嵌现象的实例。虽然在许多这些实例中几种已知的回复机制很明显，但在其他一些实例中却不明显。本文还讨论了选择作用的可能意义，特别是鉴于最近基因治疗的结果。
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