Hagymási Krisztina, Tulassay Zsolt
Semmelweis Egyetem, Altalános Orvostudományi Kar, II Belgyógyászati Klinika, Budapest.
Orv Hetil. 2005 Dec 18;146(51):2575-80.
The goal of the Human Genome Project to elucidate the complete sequence of the human genome has been achieved. The aims of the "post-genome" era are explaining the genetic information, characterisation of functional elements encoded in the human genome and mapping the human genetic variability as well. Two unrelated human beings also share 99.9% of their genomic sequence. The difference of 0.1% is the result of genetic polymorphisms: single nucleotide polymorphisms, repetitive sequences and insertion/deletion. The genetic differences, coupled with environmental exposures will determine the phenotypic variation we observe in health or disease. The disease-causing genetic variants can be identified by linkage analysis or association studies. The knowledge of human genome and application of multiple biomarkers will improve our ability to identify individuals at risk, so that preventive interventions can be applied, earlier diagnosis can be made and treatment can be optimized.
人类基因组计划阐明人类基因组完整序列的目标已经实现。“后基因组”时代的目标是解释遗传信息、表征人类基因组中编码的功能元件以及绘制人类遗传变异图谱。两个不相关的人也共享其99.9%的基因组序列。0.1%的差异是遗传多态性的结果：单核苷酸多态性、重复序列和插入/缺失。遗传差异与环境暴露相结合，将决定我们在健康或疾病中观察到的表型变异。致病基因变异可通过连锁分析或关联研究来识别。人类基因组知识和多种生物标志物的应用将提高我们识别高危个体的能力，从而能够采取预防性干预措施、进行早期诊断并优化治疗。
