Huntington disease: no evidence for locus heterogeneity.
Huntington disease: no evidence for locus heterogeneity.
复制标题
亨廷顿病：没有证据表明基因座异质性。
DOI：
10.1016/0888-7543(89)90062-1
复制
发表时间：
1989
期刊：
影响因子：
4.4
通讯作者：
Young,AB
中科院分区：
文献类型：
--
作者：
Conneally,PM;Haines,JL;Tanzi,RE;Wexler,NS;Penchaszadeh,GK;Harper,PS;Folstein,SE;Cassiman,JJ;Myers,RH;Young,AB
对63个亨廷顿病(HD)家系进行了HD与G8(D4S10)的连锁分析。这些家庭包括57名高加索人，4名美国黑人和2名日本人。当θ=0.04时(99%可信区间0.018~0.071)，综合最大LOD评分为87.69分。重组频率最高的男性为0.03，女性为0.05。57个家庭给出了积极的Lod得分；5个小家庭给出了轻微的消极Lod得分。连锁基因座比例α的最大似然估计为1.0，较低的99%可信区间为0.88。这些数据表明，只有一个HD基因座，尽管不能排除第二个罕见的基因座。
A total of 63 families with Huntington disease (HD) were examined for linkage between HD and G8 (D4S10). The families included 57 Caucasian, four Black American, and two Japanese. The combined maximum lod score was 87.69 at θ = 0.04 (99% confidence interval 0.018–0.071). The maximum frequency of recombination was 0.03 in males and 0.05 in females. Fifty-seven families gave positive lod scores; five small families gave mildly negative lod scores. The maximum likelihood estimate of α, the proportion of linked loci, was 1.0 with a lower 99% confidence interval of 0.88. These data suggest that there is only one HD locus, although a second rare locus cannot be ruled out.