6号染色体上阅读障碍的数量性状基因座。

Quantitative trait locus for reading disability on chromosome 6.

作者信息

Cardon L R, Smith S D, Fulker D W, Kimberling W J, Pennington B F, DeFries J C

机构信息

Health Sciences Program, SRI International, Menlo Park, CA 94025.

出版信息

Science. 1994 Oct 14;266(5183):276-9. doi: 10.1126/science.7939663.

DOI:10.1126/science.7939663

PMID:7939663

Abstract

Interval mapping of data from two independent samples of sib pairs, at least one member of whom was reading disabled, revealed evidence for a quantitative trait locus (QTL) on chromosome 6. Results obtained from analyses of reading performance from 114 sib pairs genotyped for DNA markers localized the QTL to 6p21.3. Analyses of corresponding data from an independent sample of 50 dizygotic twin pairs provided evidence for linkage to the same region. In combination, the replicate samples yielded a chi 2 value of 16.73 (P = 0.0002). Examination of twin and kindred siblings with more extreme deficits in reading performance yielded even stronger evidence for a QTL (chi 2 = 27.35, P < 0.00001). The position of the QTL was narrowly defined with a 100:1 confidence interval to a 2-centimorgan region within the human leukocyte antigen complex.

摘要

对来自同胞对的两个独立样本的数据进行区间定位分析，这些同胞对中至少有一名成员存在阅读障碍，结果显示6号染色体上存在一个数量性状基因座（QTL）。对114对同胞对进行DNA标记基因分型并分析其阅读表现，结果将该QTL定位到6p21.3。对来自50对异卵双胞胎独立样本的相应数据进行分析，也为该区域的连锁提供了证据。综合来看，重复样本产生的卡方值为16.73（P = 0.0002）。对阅读表现有更极端缺陷的双胞胎和亲属同胞进行检查，得到了更强的QTL证据（卡方 = 27.35，P < 0.00001）。该QTL的位置被精确地定义在人类白细胞抗原复合物内一个2厘摩的区域，置信区间为100:1。