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通过数量性状方法确定,语音编码诵读困难与6号染色体p23-21.3之间不存在显著连锁:定性分析的确认。

Absence of significant linkage between phonological coding dyslexia and chromosome 6p23-21.3, as determined by use of quantitative-trait methods: confirmation of qualitative analyses.

作者信息

Petryshen T L, Kaplan B J, Liu M F, Field L L

机构信息

Department of Medical Genetics, Health Sciences Centre, 3330 Hospital Drive NW, Calgary, Alberta T2N 4N1, Canada.

出版信息

Am J Hum Genet. 2000 Feb;66(2):708-14. doi: 10.1086/302764.

DOI:10.1086/302764
PMID:10677330
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1288123/
Abstract

We recently reported the absence of significant linkage of phonological coding dyslexia (PCD) to chromosome 6p23-p21.3 in 79 families with at least two affected siblings, even though linkage of dyslexia to this region has been found in four other independent studies. Whereas, in our previous analyses, we used a qualitative (affected, unaffected, or uncertain) PCD phenotype, here we report a reanalysis of linkage to the chromosome 6p region, by use of four quantitative measures of reading disability: phonological awareness, phonological coding, spelling, and rapid-automatized-naming (RAN) speed. The phonological-coding and spelling measures were highly correlated with each other and with the qualitative PCD phenotype, whereas the phonological-awareness and RAN-speed measures were only moderately correlated with the other measures. Using two-point and multipoint quantitative-trait sib-pair linkage analyses and variance-components analyses, we were unable to detect significant evidence for a locus in the 6p23-p21.3 region influencing any of the quantitative reading measures, supporting our previous qualitative linkage results. The most likely explanation for our inability to detect linkage between dyslexia and this region is that families with subtypes of dyslexia linked to this region are underrepresented in our sample, because of either chance or varying ascertainment criteria.

摘要

我们最近报告称,在79个至少有两名患病兄弟姐妹的家庭中,语音编码诵读困难(PCD)与6号染色体p23 - p21.3区域之间不存在显著连锁关系,尽管在其他四项独立研究中发现诵读困难与该区域存在连锁关系。然而,在我们之前的分析中,我们使用的是定性的(患病、未患病或不确定)PCD表型,在此我们报告通过使用阅读障碍的四项定量指标:语音意识、语音编码、拼写和快速自动命名(RAN)速度,对与6号染色体p区域的连锁关系进行重新分析。语音编码和拼写指标彼此之间以及与定性PCD表型高度相关,而语音意识和RAN速度指标仅与其他指标中度相关。使用两点和多点定量性状同胞对连锁分析以及方差成分分析,我们未能检测到6p23 - p21.3区域中存在影响任何定量阅读指标的基因座的显著证据,这支持了我们之前的定性连锁结果。我们未能检测到诵读困难与该区域之间连锁关系的最可能解释是,与该区域连锁的诵读困难亚型家庭在我们的样本中代表性不足,原因可能是偶然因素或不同的确定标准。

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