呼吸系统疾病常常合并杵状指。我们的前期研究发现ABCA8无义突变可能参与了杵状指的形成，并且发现杵状指患者外周循环前列腺素 E2（PGE2）的水平都明显升高。有研究显示ABC转运体家族（ABCA8隶属其亚家族，其与脂质转运有关）参与了前列腺素的转运，但ABCA8无义突变是否通过影响前列腺素转运体的功能而引起细胞外PGE2水平的升高而导致杵状指的发病，还有待于进一步求证。本研究拟通过对呼吸系统疾病中常见的肺间质疾病合并杵状指家系及肺部肿瘤合并杵状指散发病例等进行已知突变基因筛查、基因全外显子测序、体外细胞实验、以及ABCA8基因敲除小鼠功能验证等方法，进一步研究ABCA8与杵状指的关系，从而为研究杵状指发生机制的新理论以及引起杵状指原发疾病的诊疗新思路提供指导。

Respiratory diseases，such as lung tumor, interstitial lung diseases，often go with clubbing.Our preliminary study have found that nonsense mutation in ABCA8 may be involved in the pathogenesis of clubbing, and prostaglandin E2 increased significantly in peripheral circulating blood in the patients with clubbing. Furthermore, the ABC transporter family (ABCA8 belonging to the family, related to lipid transport) have participated in the process of prostaglandin transportation.there is a need to ivestigate whether nonsense mutation in ABCA8 could influence the function of prostaglandin transporter and lead to a high level of PGE2 ,which could take apart in the pathogenesis of clubbed finger.This study will observe the whole exome sequencing, experiments in vitro cell, as well as the functional verification in the ABCA8 knockout mice in familial interstitial lung disease and lung tumor with clubbing，to investigate whether nonsense mutation in ABCA8 could result in clubbed finger.Completion of this study may represent a new therapeutic option in the prevention and treatment of the primary disease with clubbed finger.