Suppr超能文献

复杂遗传性疾病的分子遗传学

The molecular genetics of complex inherited diseases.

作者信息

Williamson R

机构信息

Department of Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School, University of London, Norfolk, UK.

出版信息

Br J Cancer Suppl. 1988 Dec;9:14-6.

Abstract

The majority of inherited diseases are due to unknown biochemical defects, or are either polygenetic or multifactorial. Due to advances in molecular genetics, it is now possible to study these conditions, either by reverse genetics (using cloning techniques to move from linkage to gene, and then determining the protein involved) or by dissecting a complex disease into a set of monogenic paradigms.

摘要

大多数遗传性疾病是由未知的生化缺陷引起的,或者是多基因或多因素的。由于分子遗传学的进展,现在可以通过反向遗传学(使用克隆技术从连锁关系找到基因,然后确定相关蛋白质)或通过将复杂疾病分解为一组单基因范例来研究这些病症。

相似文献

2
DNA variation and the future of human genetics.DNA变异与人类遗传学的未来。
Nat Biotechnol. 1998 Jan;16(1):33-9. doi: 10.1038/nbt0198-33.
5
Molecular testing for inherited diseases.
Am J Clin Pathol. 1999 Jul;112(1 Suppl 1):S19-32.
6
Diagnosis of genetic disorders at the DNA level.在DNA水平上对遗传疾病进行诊断。
N Engl J Med. 1989 Jan 19;320(3):153-63. doi: 10.1056/NEJM198901193200305.

本文引用的文献

2

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验