Korf B R
Department of Neurology, Children's Hospital, Boston, MA, USA.
Curr Opin Obstet Gynecol. 1996 Apr;8(2):130-4.
Approaches to the diagnosis of genetic disease using the tools of molecular genetics are being developed at a rapid pace as efforts to map the human genome progress. Technical challenges remain, however, in devising approaches to permit the wide diversity of pathogenic mutations to be identified in an efficient manner. Moreover, the possibility of population screening for carrier status for gene mutations raises important ethical and social questions. Major progress has been made in both areas and the list of disorders amenable to molecular diagnosis is expanding rapidly.
随着绘制人类基因组图谱工作的推进，利用分子遗传学工具诊断遗传疾病的方法正在迅速发展。然而，在设计能够有效识别各种致病突变的方法方面，技术挑战依然存在。此外，针对基因突变携带者状态进行群体筛查的可能性引发了重要的伦理和社会问题。这两个领域都已取得重大进展，适合进行分子诊断的疾病清单正在迅速增加。
