Genetic Analysis of left-right axis malformations

左-右（L-R）轴畸形的复杂遗传学研究已经进行，重点是与L-R疾病的常见表型相关的基因，包括内脏逆位、内脏异位和器官异构。L-R缺陷可由环境或遗传原因引起（Roessler和Muenke，2001），这些研究的目的是通过研究患有这些疾病的患者来确定负责正常和异常L-R轴形成的基因。几种这样的基因中的突变已被证明是导致几种家族性和散发性异位症病例的原因：ZIC 3（Gebbia等人，1997）、LEFTY A（Kosaki R等人，1999）、ACVR 2B（Kosaki K等人，1999）和CFC 1（Bamford等人，2000年）。我们预计，在寻找偏侧性障碍的遗传原因时，将确定许多对L-R发育重要的额外基因。

A study of the complex genetics of left-right (L-R) axis malformations has been undertaken with an emphasis on those genes that are associated with common phenotypes of L-R disorders, including situs inversus, heterotaxia and organ isomerism. L-R defects can result from either environmental or genetic causes (Roessler and Muenke, 2001) and it is the aim of these investigations to determine the genes responsible for both normal and abnormal L-R axis formation through the study of patients with these disorders. Mutations in several such genes have been shown to be responsible for several familial and sporadic cases of heterotaxia: ZIC3 (Gebbia et al. 1997), LEFTY A (Kosaki R, et al., 1999), ACVR2B (Kosaki K, et al. 1999), and CFC1 (Bamford et al., 2000). We anticipate that many additional genes important for L-R development will be identified in the search for genetic causes of laterality disorders.