Genetic analysis of a large multiplex Nasopharyngeal Carcinoma (NPC)family from S

描述（由申请人提供）：鼻咽癌（NPC）具有极不均匀的地理和种族分布。环境因素，如食物保存不当和暴露于EB病毒似乎参与了鼻咽癌的病因。遗传易感性也可能参与其中，但参与NPC易感性的基因的身份仍然难以捉摸。与世隔绝的人群，特别是那些患病率异常高的人群，为研究人类疾病的遗传原因提供了难得的机会。马来西亚沙捞越的Bidayuh族群具有异常高的NPC患病率。我们已经确定了一个非常大的Bidayuh多重谱系，其中26例NPC病例可以追溯到一个单一的创始村庄。我们集中了NPC病例的广泛招募，允许从11个NPC病例中收集血液样本，并可以推断另外7个NPC病例的遗传信息。本申请旨在使用高密度基因分型和直接全外显子组DNA测序的组合对该家系进行全面的遗传分析。在这个特别大的谱系中鉴定的感兴趣的基因将在其他人群中验证和复制。

DESCRIPTION (provided by applicant): Nasopharyngeal carcinoma (NPC) has an extremely heterogeneous geographical and ethnic distribution. Environmental factors such as suboptimal food preservation and exposure to EBV appear involved in the etiology of NPC. Genetic susceptibility is also likely to be involved but the identity of the genes involved in susceptibiliy to NPC remains elusive. Isolated populations, particularly those with unusually high diseases prevalence, offer rare opportunities to investigate the genetic cause of human disease. The Bidayuh ethnic subgroup of Sarawak Malaysia has unusually high prevalence of NPC. We have identified one exceptionally large Bidayuh multiplex pedigree in which 26 NPC cases can be traced back to a single founding village. We have focused extensive recruitment of the NPC cases allowing the collection of blood samples from 11 of the NPC cases, and can to infer genetic information for an additional 7 NPC cases. This application aims to perform comprehensive genetic analysis of this pedigree using a combination of high density genotyping and direct whole exome DNA sequencing. The genes of interest identified in this exceptionally large pedigree will be validated and replicated in additional populations.