Van Agtmael Tom, Forrest Susan M, Williamson Robert
Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Melbourne, Australia.
Eur J Hum Genet. 2002 Oct;10(10):623-30. doi: 10.1038/sj.ejhg.5200851.
The frequency of left-handedness in the general population is around 11%. Both environmental and genetic models have been proposed to explain the aetiology of human handedness. The majority of genetic models, such as those of Annett, McManus and Klar, propose a single gene determinant with a non-Mendelian inheritance pattern. As left-handedness is correlated with cerebral asymmetry and is a feature of left-right asymmetry, genes involved in the development of left-right asymmetry can be considered as candidate genes. Candidate gene analysis was performed using an informative extended pedigree, and also using nuclear families of right-handed parents with left-handed children. Segregation analysis in the extended pedigree identified allele sharing in the NODAL and DNAHC13 candidate regions on chromosome 10 and 1. Linkage analysis using the models of Klar and McManus, and non-parametric analysis on nuclear families, subsequently excluded all candidate regions tested. This demonstrates the power to identify the genes specifying handedness by the conduct of extended genetic studies on these and similar cohorts.
一般人群中左利手的比例约为11%。环境模型和遗传模型都已被提出用于解释人类利手的病因。大多数遗传模型，如安妮特、麦克马纳斯和克拉尔的模型，都提出了一个具有非孟德尔遗传模式的单一基因决定因素。由于左利手与大脑不对称相关，并且是左右不对称的一个特征，参与左右不对称发育的基因可被视为候选基因。使用一个信息丰富的扩展家系以及有左利手孩子的右利手父母的核心家庭进行了候选基因分析。扩展家系中的分离分析确定了10号和1号染色体上NODAL和DNAHC13候选区域的等位基因共享。随后，使用克拉尔和麦克马纳斯的模型进行连锁分析以及对核心家庭进行非参数分析，排除了所有测试的候选区域。这证明了通过对这些及类似队列进行扩展遗传研究来识别决定利手的基因的能力。
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