【摘要】 报告了用α珠蛋白基因3′端高变区3′HVR做探针,对一个成人型多囊肾病(APKD)家系进行连锁分析和异质性研究的结果。家系中3′HVR与APKD位点之间的重组率异乎寻常地高。运用不同外显率模型进行计算机分析,两点间Lod score值排除了APKD与3′HVR连锁的可能性。Smith的A检验显示,该家系APKD与3′HVR不连锁的条件概率为0.99,与已发表的28个无异质性APKD家系相比较,尚未获得足以支持遗传异质性的统计学依据。就进一步研究这一家系遗传异质性的策略进行了探讨。更多还原

【Abstract】 A family with adult polycystic kidney disease has been studied for genetic linkage using the 3’ HVR probe. It showed unusual high recombination frequency between the marker and disease locus. Lod scores for linkage between the two points were computed using different penetrance models. Genetic linkage was effectively excluded at θ=0.09 and 0.01, respectively. Smith’s A-test gave a conditional probability of non-linkage of 0.99. The support for the hypothesis of heterogeneity compared with previously published 28 APKD families, which showed no heterogeneity, was not yet found to be statisticaly significant (P=0.0044). The strategies for further study of heterogeneity in this family were discussed.更多还原