论文部分内容阅读
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。
Reported the results of a linkage analysis and heterogeneity study of a pedigree of adult polycystic kidney disease (APKD) using the 3’HVR 3’HVR probe of the alpha globin gene as a probe. The recombination rate between the 3’HVR and APKD sites in the pedigree is unusually high. Using different penetrance models for computer analysis, the Lod score between two points ruled out the possibility of APKD linking with 3’HVR. Smith’s A-test showed that the conditional probability that the pedigree APKD was not linked to 3’HVR was 0.99 and no statistical basis was found to be sufficient to support genetic heterogeneity compared to the 28 non-heterogeneous APKD families published. The further study of this family genetic heterogeneity strategy was discussed.