人类遗传病

利用统计力学模型讨论了与人类遗传病有关的DNA三核苷酸重复序列的弯曲和柔性。

We use a statistical mechanical model to discuss bending and flexibility of trinucleotide repeat sequences ( TRS ) which associate with several human genetic diseases .

离子通道与人类遗传病

Ion channels and human genetic diseases

人类遗传病的家系收集疾病基因定位克隆与疾病基因功能的研究

Study on Family Collection , Gene Mapping , Gene Identification and Gene Function of Human Genetic Diseases

基因敲除、精细突变和条件性基因打靶技术建立的基因打靶突变小鼠在人类遗传病机理研究、基因治疗和基因功能研究方面都有着重要作用。

Gene targeted mouse mutants , which have been generated by the techniques of the gene knockout , the subtle gene targeting and the conditional gene targeting , will play the important role in the mechanisms of pathogenesis of human genetic diseases , gene therapy and gene function researches .

罗泽伟等进一步发展统计分析方法检测及估算分子标记与QTL之间的连锁不平衡系数，从而提出了人类复杂遗传病高解析度基因定位的理论策略。

W. Luo developed a method that can detect and estimate the coefficient of linkage disequilibrium between a marker locus and quantitative trait locus ( QTL ), and raised the theoretical strategies for high resolution mapping of complex genetic disorders in humans .

人类主要遗传病分析及治疗展望

Prospect for Analysis and Treatment of Human Major Genetic Diseases

人类单基因遗传病的遗传方式

Inheritance Patterns of the Human Monogenic Diseases

基因治疗已在治疗多种人类重大疾病如遗传病、肿瘤等方面显示出良好的应用前景，但也面临着巨大的挑战，主要是如何选择安全、高效、靶向的载体系统。

Gene therapy has shown great potentials in the treatment of a number of human key diseases , such as genetic diseases , cancer and so on , yet there are still some big challenges to face .

有关线粒体DNA（mtDNA）的突变与人类疾病和衰老乃至肿瘤的关系日益受到人们的关注，研究表明，mtDNA突变的积累与氧化损伤是人类线粒体遗传病与各种退行性疾病的分子基础。

Studies show that the accumulation of mutation and oxidative damage of mitochondrial DNA ( mtDNA ) are the molecular mechanism of mitochondrial heredopathia and degenerative diseases .

人类染色体识别是医学遗传学的重要研究课题，其在医学临床诊断、辅助教学及科研等领域有着广泛的应用，它是判断人类遗传病的重要依据。

Human chromosome identification is an important research topic for medical genetics , which has widely been applied in clinical medicine , teaching aids and scientific research . It is the basic accordance to judge the human genetic disease either .