Pericak-Vance M A, Yamaoka L H, Assinder R I, Hung W Y, Bartlett R J, Stajich J M, Gaskell P C, Ross D A, Sherman S, Fey G H
Neurology. 1986 Nov;36(11):1418-23. doi: 10.1212/wnl.36.11.1418.
The cDNA and genomic probes for apolipoprotein C2 detect two restriction fragment length polymorphisms on chromosome 19. The combined estimated percentage of heterozygosity, assuming equilibrium, is approximately 75%, ie, apolipoprotein C2 is informative in 75% of matings. We have analyzed over 350 individuals in large multigenerational families for linkage of apolipoprotein C2 to myotonic muscular dystrophy. The maximum lod score was 16.29 with the maximum recombination fraction (theta) of 0.02, with 95% confidence limits for theta of 0.001 to 0.065. Thus, apolipoprotein C2 is useful in carrier detection and prenatal diagnosis with an accuracy of about 98%.
载脂蛋白C2的cDNA和基因组探针可检测到19号染色体上的两种限制性片段长度多态性。假设处于平衡状态，杂合性的综合估计百分比约为75%，即载脂蛋白C2在75%的交配中具有信息性。我们在大型多代家庭中分析了350多名个体，以研究载脂蛋白C2与强直性肌营养不良的连锁关系。最大lod分数为16.29，最大重组分数（θ）为0.02，θ的95%置信限为0.001至0.065。因此，载脂蛋白C2可用于携带者检测和产前诊断，准确率约为98%。
