Moore G E, Ivens A, Chambers J, Farrall M, Williamson R, Page D C, Bjornsson A, Arnason A, Jensson O
Nature. 1987;326(6108):91-2. doi: 10.1038/326091a0.
Many congenital malformations, such as cleft palate and neural tube defects, have a multifactorial origin involving both environmental and genetic factors. Conditions such as these may be exclusively monogenic, polygenic or environmental, but in most cases both genetic and environmental factors are involved. This study describes the sub-chromosomal localization of a single gene defect causing cleft palate and ankyloglossia (tongue-tied) in a large Icelandic family. This defect is a model for the analysis of other neural-crest malformations that show a more complex multifactorial inheritance pattern.
许多先天性畸形,如腭裂和神经管缺陷,都有涉及环境和遗传因素的多因素起源。诸如此类情况可能完全是单基因、多基因或环境因素导致的,但在大多数情况下,遗传和环境因素都有涉及。本研究描述了在一个冰岛大家庭中导致腭裂和舌系带过短(舌粘连)的单个基因缺陷的亚染色体定位。这一缺陷是分析其他显示更复杂多因素遗传模式的神经嵴畸形的一个模型。