Roses A D, Pericak-Vance M A, Bartlett R J, Yamaoka L H, Lee J E, Koh J, Chen J C, Gilbert J R, Ross D A, Herbstreith M H
Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710.
Aust Paediatr J. 1988;24 Suppl 1:66-9.
Using standard likelihood linkage techniques, the gene for dystrophia myotonica has been localized to the proximal long arm of chromosome 19. Several large families provided the substrate for detecting linkage of restriction fragment length polymorphisms which were developed in the laboratory from flow-sorted chromosome 19 genomic libraries. In over 500 family members from five families only a single cross-over with ApoC2 was detected. Thus a useful probe for antenatal and preclinical diagnosis is now available. Details of the strategy employed within the framework of clinical diagnosis, genetic epidemiology and recombinant DNA techniques is described.
运用标准的似然连锁技术，强直性肌营养不良基因已被定位到19号染色体长臂近端。几个大家庭为检测限制性片段长度多态性的连锁提供了样本，这些多态性是在实验室从经流式细胞分选的19号染色体基因组文库中开发出来的。在来自五个家庭的500多名家庭成员中，仅检测到与载脂蛋白C2的一次交换。因此，现在有了一种用于产前和临床前诊断的有用探针。本文描述了在临床诊断、遗传流行病学和重组DNA技术框架内所采用策略的详细情况。
