双侧外耳缺失伴发外耳道闭锁猪动物模型的鉴定及其应用

Identification and application of pig model with bilateral external ear defects accompanied by aural atresia

目的对双侧外耳缺失伴发外耳道闭锁的猪进行鉴定，探讨其作为动物模型在整形外科的应用。方法以1头二花脸公猪和1头沙子岭母猪为祖代个体，构建F2近交群体。对患病和表型正常个体的外耳形态进行检查。选取1头正常个体和1头它的全同胞双侧外耳缺失的患病个体，行颞部CT扫描，并对HOXAl基因突变进行检测。结果二花脸×沙子岭F2近交群体中，75头F2个体中有57头表型正常个体和18头患病个体。患病个体为双侧外耳缺失伴发外耳道闭锁，颞部CT显示为双侧外耳道闭锁、中耳结构发育不良；基因检测结果为HOXAl纯合突变。结论HOXAl基因纯合突变的猪动物模型，符合人类双侧小耳畸形特征，为其进一步在小耳畸形病理机制中的应用提供了理论基础。

Objective To identify a pig model with bilateral external ear defects accompanied by aural atresia and investigate its application in plastic surgery. Methods Erhualian x Shaziling F2 pig inbreeding population was introduced, and examination of external ear morphology was conducted in all individuals. Temporal computed tomography scanning and mutational detection of HOXA1 gene were conducted in one affected and one normal individuals. Results In Erhualian Shaziling F2 pig inbreeding population, there were 57 normal and 18 affected individuals among the 75 pigs. Affected subjects presented bilateral external ear defects accompanied by aural atresia; temporal computed tomography scanning showed bilateral aural atresia and dysplasiaof middle ear; and gene detection identified homozygous mutation of HOXA1 gene. Conclusions Pig model with HOXAI gene homozygous mutation resembles human microtia at different levels. Our findings provide the theoretical basis for its application to study further pathological mechanism for human microtia.