COMMINGLING AND SEGREGATION ANALYSIS OF READING PERFORMANCE IN FAMILIES OF NORMAL READING PROBANDS
COMMINGLING AND SEGREGATION ANALYSIS OF READING PERFORMANCE IN FAMILIES OF NORMAL READING PROBANDS
复制标题
DOI：
10.1007/bf01067536
复制
发表时间：
1994-07-01
影响因子：
2.6
通讯作者：
PENNINGTON, BF
中科院分区：
文献类型：
--
作者：
GILGER, JW;BORECKI, IB;PENNINGTON, BF
本文报告了对125个正常、非残疾阅读者确定的数量阅读表型进行混合和遗传分离分析的结果。使用SKUMIX的混合分析表明，阅读表型最适合偏态的单分布模型。然后使用POINTER对功率调整后的数据进行复杂分离。虽然有一些分析的模糊性和复杂性，分离分析表明，有家族传播的表型和显着比例的变异，在这种表型可以归因于一个主基因的显性。因为推定的显性等位基因的估计频率是0.35，所以57%的群体将携带至少一个该等位基因的拷贝。这种常见的等位基因，低等位基因，占阅读成绩表型变异的54%。这些发现被认为是在我们早期报告的背景下，在最初与对照家族的本样本匹配的133个睡眠障碍先证者家族的样本中，主要基因对定性睡眠障碍表型的影响（彭宁顿等人，1991年）。一个经典的单基因，多因子多基因，寡基因或QTL模型阅读能力/残疾的适用性进行了讨论。
This paper reports the results of commingling and genetic segregation analyses performed on a quantitative reading phenotype in 125 families ascertained through normal, nondisabled readers. Commingling analysis using SKUMIX suggested that the reading phenotype best fit a skewed, single distribution model. Complex segregation using POINTER was then performed on the power adjusted data. While there were some analytical ambiguities and complexities, the segregation analysis indicated that there was familial transmission of the phenotype and that a significant percentage of the variance in this phenotype could be attributed to a major gene with dominance. Because the estimated frequency of the putative dominant allele is .35, 57% of the population would carry at least one copy of this allele. This common allele, with low penetrance, accounted for 54% of the phenotypic variance in reading scores. These findings are considered in the context of our earlier report of major gene influence on a qualitative dyslexic phenotype in a sample of 133 dyslexic proband families that were originally matched to the present sample of control families (Pennington et al., 1991). The applicability of a classic single gene, multifactorial-polygenic, and oligogenic or QTL models for reading ability/disability is discussed.