牛蜘蛛腿综合征:一种骨骼系统畸形遗传疾病

摘要

牛蜘蛛腿综合征(Arachnomelia syndrome,AS)是主要在欧洲瑞士褐牛和德系西门塔尔牛群体中出现的一种以骨骼畸形为病理特征的先天致死性遗传病,呈孟德尔隐性遗传.文章通过对AS的发现历史、病理特点、遗传规律以及AS在欧洲瑞士褐牛和德系西门塔尔牛两个品种中分子机理研究进展进行综述,并从骨骼发育,比较基因组学两方面对西门塔尔牛AS的定位区段进行候选基因的预测,为以后筛查影响该病的基因及其突变以及建立检测方法提供一定的依据.%Arachnomelia syndrome (AS) is a lethal congenital malformation of skeleton in cattle, which proved to be an autosomal recessive inherited defect.This disease was mainly observed in European Brown Swiss and German Fleckvieh populations.This review focused on the discovery history, pathologic characteristics, mode of inheritance, and progresses on molecular mechanism of AS in both European Brown Swiss and German Fleckvieh populations.Moreover, through analyzing candidate genes in the mapping region related to bone development and using the methods of comparative genomics, this paper provides a starting point of identifying the causal gene(s) of AS and establishing detection method of the mutations.