Haile R W, Hodge S E, Visscher B R, Spence M A, Detels R, McAuliffe T L, Park M S, Dudley J P
Clin Genet. 1980 Sep;18(3):160-7. doi: 10.1111/j.1399-0004.1980.tb00864.x.
To test the hypothesis that a multiple sclerosis susceptibility (MSS) gene is linked to the HLA loci, formal linkage analysis was conducted on 40 multiplex families, 20 each from the Seattle and Los Angeles areas. The computer program LIPED was utilized. A dominant model of inheritance was assumed. Penetrance values of 0.05, 0.35, and 0.67 were entered into the analyses, and an age-of-onset correction was incorporated. The resulting lod scores were supportive of linkage at the lower penetrance levels. The maximum lod score, 2.411, at an estimated recombination fraction of 0.10 in both males and females, was generated at a penetrance value of 0.05. With a penetrance value of 0.67, the lod scores did not support linkage. Under an autosomal dominant model of inheritance, the results were supportive of linkage when the presumed penetrance of the MSS gene is low. The results also confirmed the importance of incorporating an age-of-onset correction into linkage analyses.
为检验多发性硬化易感性（MSS）基因与HLA基因座连锁的假说，对40个多位点家庭进行了正式的连锁分析，其中20个来自西雅图地区，20个来自洛杉矶地区。使用了计算机程序LIPED。假定为显性遗传模式。将外显率值0.05、0.35和0.67输入分析，并纳入发病年龄校正。所得的对数优势比分数在较低外显率水平支持连锁。在0.05的外显率值时，在估计重组率为0.10的情况下，男性和女性的最大对数优势比分数为2.411。在外显率值为0.67时，对数优势比分数不支持连锁。在常染色体显性遗传模式下，当假定MSS基因的外显率较低时，结果支持连锁。结果还证实了在连锁分析中纳入发病年龄校正的重要性。
