下颌前突畸形遗传学病因的研究进展

Genetic Etiology of Mandibular Prognathism

下颌前突(mandibular proghathism,MP)是一种常见的颅颌面发育畸形,其病因较为复杂,是由环境和遗传因素共同作用引起的复杂疾病。由于下颌前突畸形有明显的家族聚集性,遗传因素在其病因中发挥的作用逐渐受到学者们的重视。近年来,随着遗传学检测和分析手段的发展,通过家系连锁分析和病例对照关联研究等,许多与下颌前突畸形相关的基因和基因多态被报道,这些研究进展有助于下颌前突遗传学病因和发病机制的理解。本文将对下颌前突畸形遗传学病因的研究进展从遗传模式、家系连锁分析、病例对照关联研究和microRNA的相关研究等方面做一综述。

Mandibular prognathism (MP) is a common craniofacial defonnity resulting from the complex interaction between genes and environment. Since family aggregation is observed in MP patients, genetic components are considered to play important roles in developing MP. Recent studies have demonstrated that susceptible chromosomal regions and candidate genes may be responsible for MP. In this study, the author present current views from linkage analysis, association and microRNA related study on the effect of genetic components in mandibular prognathism in order to clarify the genetic etiology of MP.