小耳畸形基因的表型-基因分析软件Phenolyzer分析  

Phenotype-based gene analyzer applied to the genetics of microtia

作　　者：刘柳[1] 王海涛[2] 李辉正[1] 程行健[1] 杨磊[1] Liu Liu;Wang Haitao;Li Huizheng;Cheng Xingjian;Yang Lei(Department of Burn and Plastic Surgery,Hebei Medical University Third Hospital,Shijiazhuang 050051,China;Department of Burn and Plastic and Cosmetic Surgery,Weihai Municipal Hospital,Weihai 264200,China)

机构地区：[1]河北医科大学第三医院烧伤整形外科,石家庄050051 [2]山东大学威海市立医院烧伤整形美容外科,264200

出　　处：《中华医学美学美容杂志》2019年第6期512-515,共4页Chinese Journal of Medical Aesthetics and Cosmetology

摘　　要：目的探讨应用表型-基因分析软件Phenolyzer,对小耳畸形可能的候选基因进行分析并根据其分值进行排序的价值。方法在Phenolyzer的界面中输入检索词"Microtia"。经过疾病匹配、基因查询、基因评分系统、种子基因扩展以及基因排序等步骤,最终生成关于小耳畸形的遗传信息结果。同时,对排名前10位的候选基因进行细节追踪。结果13485个与小耳畸形或涉及小耳畸形综合征相关的基因,其中130个为种子基因。每个基因都有相应的得分,分数越高表示与小耳畸形的相关性越大。其中,排名前10位的基因包括HOXA2,CHD7,CDT1,CDC6,ORC1,ORC4,ORC6,SMAD4,GLI3以及MED12。结论Phenolyzer对小耳畸形的候选基因进行了详细汇总并科学地排序,为高通量测序结果的筛选以及后续的研究提供精确的研究方向。Objective Microtia is a relatively common birth defect,and its etiology is still unclear.In this paper,Phenolyzer,a kind of phenotype-based gene analyzer,was used to prioritize candidate genes involved in microtia.Methods The search term"Microtia"was entered in the Phenolyzer interface.Through the steps of disease matching,gene query,gene scoring,seed gene expansion,the genetic information results of microtia were finally generated.This article traced 10 candidate genes in detail.Results There were 13485 genes associated with microtia or related syndromes,of which 130 were seed genes.Each gene had a corresponding score,and the higher the score,the greater the correlation with the microtia.Among them,the top 10 genes included HOXA2,CHD7,CDT1,CDC6,ORC1,ORC4,ORC6,SMAD4,GLI3 and MED12.Conclusions Phenolyzer provides a detailed summary of candidate genes for microtia,providing accurate research directions for screening high-throughput sequencing results and subsequent studies.

关 键 词：先天性小耳畸形 基因 排序 表型-基因分析软件 

分 类 号：R73[医药卫生—肿瘤]