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分区双胞胎分析:一项效能研究。

Partitioned twin analysis: a power study.

作者信息

Nance W E, Neale M C

出版信息

Behav Genet. 1989 Jan;19(1):143-50. doi: 10.1007/BF01065889.

Abstract

Individual differences in the human genome may now be measured with molecular genetic techniques. Therefore, dizygotic (DZ) twins may be classified as sharing two, one, or zero "genes" identical by descent for any measured polymorphism. As a result, we may partition genetic variation into two sources: (i) genotypes at and closely linked to particular marker loci identified with restriction fragment length polymorphisms (RFLPs) and (ii) other genetic variation. The power of the classical twin study to reject false models lacking either a marker effect or a residual genetic effect is explored. Additivity of genetic effects at or near the locus and of the residual genetic variation as well as random environmental variation are assumed. Results indicate that statistical rejection of models could be achieved with sample sizes which are within the range of several current twin registers. A design including monozygotic (MZ) twins is compared with one consisting of only DZ twins. MZ twins add considerable power for the detection of residual genetic variation but provide no information to resolve genetic marker effects.

摘要

现在可以用分子遗传学技术来测量人类基因组中的个体差异。因此,对于任何测得的多态性,异卵(DZ)双胞胎可被分类为共享两个、一个或零个通过血缘关系相同的“基因”。结果,我们可以将遗传变异分为两个来源:(i)与通过限制性片段长度多态性(RFLP)鉴定的特定标记位点紧密连锁的基因型,以及(ii)其他遗传变异。探讨了经典双胞胎研究拒绝缺乏标记效应或残余遗传效应的错误模型的能力。假定基因座处或附近的遗传效应以及残余遗传变异和随机环境变异具有加性。结果表明,在几个当前双胞胎登记册的样本量范围内,可以实现对模型的统计拒绝。将包含同卵(MZ)双胞胎的设计与仅由DZ双胞胎组成的设计进行了比较。MZ双胞胎为检测残余遗传变异增加了相当大的能力,但无法提供信息来解析遗传标记效应。

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