中国医学科学院学报
中國醫學科學院學報
중국의학과학원학보
ACTA ACADEMIAE MEDICINAE SINICAE
2001年
1期
2-7
,共6页
小鼠模型人类疾病小鼠基因组
小鼠模型人類疾病小鼠基因組
소서모형인류질병소서기인조
小鼠是人类疾病理想的动物模型，不仅因为小鼠在生理上与人类极为相似而且小鼠的遗传资源非常丰富，其大量的遗传变异可作为研究人类疾病的借鉴。另外，高分辨率的小鼠遗传及物理连锁图谱已经建成，小鼠基因组的测序工作不久即将完成，而且修饰小鼠基因组的技术(包括建立转基因小鼠、基因敲除、以及改建小鼠染色体的技术)也已具备；分析复杂遗传病的方法也相继建立……。这些进展加速了对小鼠疾病基因位点的鉴定与克隆，同时也促进了新模型的建立。从而使得小鼠成为人类疾病动物模型的首选。
“小鼠遗传学分析的技术与资源”，将简要介绍用于建立人类疾病的动物模型的基本技术与方法，以及现有的小鼠遗传资源。在以后各部分中，将列举涉及多种人类疾病的100多个小鼠模型。其中大多数的模型的变异，在小鼠与患者的表型极为相似；因而有助于人们理解人类疾病及寻找有效的预防、治疗方法。
小鼠是人類疾病理想的動物模型，不僅因為小鼠在生理上與人類極為相似而且小鼠的遺傳資源非常豐富，其大量的遺傳變異可作為研究人類疾病的藉鑒。另外，高分辨率的小鼠遺傳及物理連鎖圖譜已經建成，小鼠基因組的測序工作不久即將完成，而且脩飾小鼠基因組的技術(包括建立轉基因小鼠、基因敲除、以及改建小鼠染色體的技術)也已具備；分析複雜遺傳病的方法也相繼建立……。這些進展加速瞭對小鼠疾病基因位點的鑒定與剋隆，同時也促進瞭新模型的建立。從而使得小鼠成為人類疾病動物模型的首選。
“小鼠遺傳學分析的技術與資源”，將簡要介紹用于建立人類疾病的動物模型的基本技術與方法，以及現有的小鼠遺傳資源。在以後各部分中，將列舉涉及多種人類疾病的100多箇小鼠模型。其中大多數的模型的變異，在小鼠與患者的錶型極為相似；因而有助于人們理解人類疾病及尋找有效的預防、治療方法。
소서시인류질병이상적동물모형，불부인위소서재생리상여인류겁위상사이차소서적유전자원비상봉부，기대량적유전변이가작위연구인류질병적차감。령외，고분변솔적소서유전급물리련쇄도보이경건성，소서기인조적측서공작불구즉장완성，이차수식소서기인조적기술(포괄건립전기인소서、기인고제、이급개건소서염색체적기술)야이구비；분석복잡유전병적방법야상계건립……。저사진전가속료대소서질병기인위점적감정여극륭，동시야촉진료신모형적건립。종이사득소서성위인류질병동물모형적수선。
“소서유전학분석적기술여자원”，장간요개소용우건립인류질병적동물모형적기본기술여방법，이급현유적소서유전자원。재이후각부분중，장열거섭급다충인류질병적100다개소서모형。기중대다수적모형적변이，재소서여환자적표형겁위상사；인이유조우인문리해인류질병급심조유효적예방、치료방법。
The mouse is an ideal model organism for studies of human disease, because mouse is physiologically very similar to human. Also, there is a large genetic reservoir of potential models of human diseases that has been generated. In addition, high-resolution genetic and physical linkage maps are now available and the sequence of mouse genome will be completed in the near future. Furthermore, the techniques necessary for the modification of mouse genome, such as transgenic and knockout techniques, and chromosome engineering methods have been established. These techniques enable us to introduce any mutations anywhere in the mouse genome. The methods for analyzing complex genetic diseases also have been developed. These advances facilitate the identification and cloning of mouse disease loci and the establishment of new models. It makes mouse the model organism of choice by academic and industrial researchers to study human diseases. In Part I of this review, we summarize the classical and modern approaches that provide the basis of establishing mouse model of human diseases. In the following parts, we will list more than 100 mouse models of human diseases. In most of these models, the mouse mutant phenotype closely resembles the human disease phenotype. These mouse models are valuable sources for the understanding of the human diseases and they can be used to develop strategies for prevention and treatment of the diseases.
