遗传测试和遗传咨询.pdf

第24卷第11期 生命科学 Vol. 24, No. 11 2012年11月 Chinese Bulletin of Life Sciences Nov., 2012 文章编号：1004-0374(2012) 11-1277-06 遗传测试和遗传咨询 郁凯明 (上海第一妇幼保健院，上海200040) 摘　要：遗传物质的突变，包括基因突变或染色体畸变，是遗传病发生的根源，也是区别于其他疾病的基 本特点。大力开展遗传测试及筛查，及时检出遗传病患者及致病基因携带者，是提高人口素质，促进家庭 幸福、社会繁荣、国家昌盛的唯一可行的方法。遗传咨询对于检出遗传病患者及致病基因携带者，并进行 有效、可行的婚姻指导、生育指导，以减少或防止遗传病患儿的发生和发病，发挥着相当重要的作用。在 产前诊断中涉及疾病胎儿处理的道德选择问题上，遵循四项基本准则：第一，尊重夫妇双方的选择 ；第二， 对个人和家庭不产生伤害；第三，产前诊断的结果可靠 ；第四，产前诊断和遗传咨询的自愿性。这些准则 无疑在世界各国有着共同性。 关键词：遗传疾病 ；遗传测试 ；遗传咨询 ；伦理 R394 B82-057 A 中图分类号： ； 文献标志码 ： Genetic testing and genetic consultation YU Kai-Ming (Shanghai First Maternity and Child Care Centers, Shanghai 200040, China) Abstract: the mutation genetic material, including genetic mutations or chromosome aberration, is the source of genetic disease happen, is also different from other diseases of the basic characteristics. Vigorously developing test and genetic screening, timely detection genetic disease patients and virulence genes carriers, is the only feasible method to improve population quality, promote a happy family, social prosperity, prosperous country. Genetic counseling for detection genetic disease patients and virulence genes carriers, and effective and feasible marriage guidance, birth guidance, play an important role in reducing the birth of the sick children and preventing the happening of the disease of children. In prenatal diagnosis of the fetus involved in disease treatment of moral choice in the problem, follow the four basic principles: first, respect the couple’s choice; second, don’t damage the individual and famil