摘要
远端关节弯曲是一大类累及人类远端关节的疾病,基本呈常染色体显性遗传,根据临床表 型可分9个亚型:DA1-DA9,具有较强的遗传异质性。最新研究发现该病可能是由编码快骨骼肌蛋白复 合物的基因突变所引起,目前已有3个亚型基因被定位,并检测到部分突变位点,其致病机制正在被揭 示。本文就各亚型的临床分类标准、基因突变特点及分子遗传学研究进展等作一综述。
出处
《国外医学（遗传学分册）》
2005年第2期109-112,共4页
Foreign Medical Sciences(Section of Genetics )
基金
辽宁省科生殖医学开放实验室启动资金(No.200402-1)
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