Pericak-Vance M A, Hung W Y, Yamaoka L, Haynes C, Bartlett R J, Vance J M, Lee J, Siddique T, Gaskell P C, Stajich J
Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710.
Aust Paediatr J. 1988;24 Suppl 1:87-9.
The application of recombinant DNA technology to linkage analysis is revolutionizing the gene mapping field through the availability of an increasing number of restriction fragment length polymorphisms (RFLP). The successful mapping of the human genome will lead to a new era of research in human genetics with implications for carrier detection and prenatal diagnosis in any number of disorders. In addition, the development of RFLP tightly linked to a disease is critical for the potential identification of the genetic defect. A systematic approach to human gene mapping whereby it is possible to simultaneously screen several disorders for linkage is discussed. Guidelines for the database management, field studies, DNA and lymphoblast cell transformation, family history and laboratory data are included. This methodology represents the integration and application of statistical and molecular genetic, clinical and tissue culture expertise to human gene mapping.
重组DNA技术应用于连锁分析，正通过越来越多的限制性片段长度多态性（RFLP）改变着基因图谱领域。人类基因组的成功图谱绘制将引领人类遗传学研究进入一个新时代，对多种疾病的携带者检测和产前诊断具有重要意义。此外，与疾病紧密连锁的RFLP的发展对于潜在的基因缺陷识别至关重要。本文讨论了一种系统的人类基因图谱绘制方法，通过该方法可以同时筛查多种疾病的连锁情况。文中还包括了数据库管理、现场研究、DNA和淋巴细胞转化、家族史以及实验室数据的指导方针。这种方法代表了统计学、分子遗传学、临床和组织培养专业知识在人类基因图谱绘制中的整合与应用。
