GENETIC MUTATIONS IN PATIENTS W/ PRIMARY CILIARY DYSKINESIA & FAMILY

本研究的目的是确定与原发性纤毛运动障碍（PCD）相关的基因突变，PCD是一种纤毛、粘液纤毛清除缺陷和慢性肺和鼻窦疾病。 尚未发现与人类PCD有关的基因突变。 我们希望识别PCD患者，并专注于多个家族（不止一个成员受影响，不止一代人可用），以便带到GCRC进行详细的临床评估，包括胸部和鼻窦X光片，肺功能测试，纤毛活检，鼻一氧化氮测量和DNA采集。 我们还将通过邮件向无法前往查佩尔山的未受影响的家庭成员发送试剂盒，以便从脸颊（简单的颊刮）中采样DNA。最终的数据库将允许受影响的成员，未受影响的成员和表型（纤毛超微结构）之间的仔细相关性，并允许通过连锁分析和使用候选基因仔细搜索基因突变。

The purpose of this study is to identify the genetic mutations associated with Primary Ciliary Dyskinesia (PCD), a disease of defective cilia, muccociliary clearance, and chronic lung and sinus disease. No genetic mutations have yet been discovered to be linked to PCD in humans. We wish to identify patients with PCD and focus on multiplex families (more than one member affected, more than one generation available) to bring to the GCRC for detailed clinical assessments, to include chest and sinus radiographs, lung function tests, ciliary biopsies, nasal nitric oxide measurements and DNA acquisition. We will also send out kits through the mail to unaffected family members who are unable to travel to Chapel Hill which allow DNA to be sampled from the cheek (a simple buccal scrape). The final database will allow careful correlation between affected members, unaffected members and phenotype (ciliary ultra-structure), and allow a careful search for genetic mutations through linkage analysis and using candidate genes.