【摘要】 目的探讨基因分型错误对病例对照方法估计疾病外显率的影响及其程度。方法将描述基因分型错误的数学模型整合到基于病例对照样本的疾病外显率估计中,重点研究基因分型错误对于疾病外显率估计值可靠性的影响。结果基因分型错误的发生可以影响病例对照方法估计疾病外显率的精确度,影响的程度除了与错误发生频率有关外,还与基因型频率,疾病模型等因素有关。结论鉴于致病等位基因在人群中的分布频率通常很低,在估计单个致病基因位点上特定基因型的疾病外显率时,基因分型错误是一个不可忽视的影响疾病外显率估计精确性的重要因素。更多还原

【Abstract】 Objective:To find out the effect of genotyping errors,if exist,on the penetrance estimation via a case-control design.Methods:Genotyping errors were combined to the penetrance estimation with well-applied genotyping-error models mathematically,and the robustness of penetrance estimates was researched by comparing the difference between estimates with and without genotyping errors.Results:In general genotyping errors had adverse impact on the precision of penetrance estimation.But compared with previous studies,the extent of such impact couldn’t be simply leveled by error rate,difference in genotype frequency,disease model or error type also lead to distinct impact on the estimates even under the same error rate.Conclusion:Genotyping errors should not be neglected especially in the case when case-control penetrance estimation of genotypes in a disease-related biallelic site is involved.更多还原