致病基因的定位候选克隆

基因组研究的迅猛发展,使我们有必要重新审视致病基因克隆的各种策略与技术,以及人类基因组研究在致病基因克隆中的作用。定位候选克隆基因策略强调充分利用已知的细胞遗传学、医学遗传学、分子遗传学、分子生物学和生物化学知识,特别是人类基因组研究的最新成果,综合功能克隆、定位克隆与传统候选基因研究的策略,分离鉴定致病基因。今天的定位克隆已几乎不再需要染色体步移,甚至有可能避开cDNA筛选。

Positional candidate strategy for disease gene identification

Progress of large scale genomic DNA and EST sequencing, expressed sequence mapping, genotyping, SNPs, cDNA microarray and biochip techniques, and bioinformatics have provided extraordinary availability of information and reagents for disease gene identification. When a new disease gene is mapped to a specific position on a chromosome it may be possible to compare the features of the disease with the genes mapping to the same region in order to find candidate gene(s) for subsequent mutation detection. Positional candidate strategy combined the functional, positional and traditional candidate gene approaches to make the disease gene hunting more powerful.