摘要
先天性小眼球是一种先天发育异常性眼科疾病,遗传方式有常染色体显性遗传、常染色体隐性遗传和X连锁隐性遗传。迄今为止,用连锁分析和细胞遗传学方法对小眼球相关基因进行了基因定位并进一步对候选基因进行突变分析。现就近年来先天性小眼球致病基因研究方面作一综述。
Congenital microphthalmia is a developmental defect of ocular disorder with autosomal dominant, autosomal recessive, and X-linked recessive modes of inheritance. Up to date, on the bases of linkage analysis and cytogenetic analysis, the loci associated with microphthalmia have been identified and mutation analysis of the candidate loci are performed. This review summarizes recent progress in the study of microphthalmia genes.
出处
《国际遗传学杂志》
CAS
2006年第6期468-471,共4页
International Journal of Genetics
关键词
先天性小眼球
致病基因
Congenital microphthalmia
Disease-causing gene
