先天性耳前瘘管与耳轮后凹家系分析  

An Analysis on Congenital Preauricular Fistular and Posterior Helical Ear Pits Genealogy

作　　者：马瑞霞[1] 高建中[1] 霍正浩[2] 邓文国[3] 

机构地区：[1]宁夏医学院附属医院耳鼻喉科,银川750004 [2]宁夏医学院遗传病学教研室,银川750004 [3]中山医科大学达安基因诊断中心,广州510300

出　　处：《宁夏医学院学报》2006年第5期383-385,F0003,共4页Journal of Ningxia Medical College

摘　　要：目的探讨先天性耳前瘘管及先天性耳后小凹的发生部位、并发症及遗传规律。方法通过系谱分析,确定先天性耳前瘘管及先天性耳后小凹遗传方式。结果将耳前瘘管及耳后小凹视为同一性状,则子代中有46.55%患病,与预期的50%发生率差异无统计学意义(χ2=0.276,P>0.05),子代患者中无性别间差异。结论先天性耳前瘘管及先天性耳后小凹可能由同一个基因所控制,其遗传方式为常染色体显性遗传,但表现为外显不全。Objective To explore position, complications and genetic rule of the CPF and PHEP. Methods Pedigree was collected through probands and family members were interviewed. The genetic ways of CPF and PHEP were analyzed. Results Taken the CPF and the PHEP as the same feature, the prevalence was 46.55 % in the filial generations. Comparing to the expected prevalence of 50%, no significant difference was found. （χ^2 = 0. 276, P 〉 0.05）. Conclusion Both of the PHEP and the CPF were possibly controlled by the same genes. The genetic rule showed autosomal semidominant juvenile.

关 键 词：先天性耳前瘘管 先天性耳后小凹 遗传方式 系谱 

分 类 号：R764[医药卫生—耳鼻咽喉科]