常染色体隐性遗传性缺损性小眼症

Autosomal recessive colobomatous microphthalmia.

作者信息

Zlotogora J, Legum C, Raz J, Merin S, BenEzra D

机构信息

Department of Human Genetics, Hadassah Hebrew University Medical Center, Jerusalem, Israel.

出版信息

Am J Med Genet. 1994 Feb 1;49(3):261-2. doi: 10.1002/ajmg.1320490302.

DOI:10.1002/ajmg.1320490302

PMID:8209881

Abstract

Colobomatous microphthalmia was studied in multiple relatives of 5 families. In these families, the disorder was an autosomal recessive trait as opposed to the usual autosomal dominant form of the disorder. A relatively high incidence of this recessive allele is found in the Iranian Jewish community.

摘要

在5个家族的多名亲属中对缺损性小眼症进行了研究。在这些家族中，该病症为常染色体隐性性状，与该病症通常的常染色体显性形式相反。在伊朗犹太人群体中发现这种隐性等位基因的发生率相对较高。