人类SNAIL（SNAI1）基因中的多态性

Polymorphisms in the Human SNAIL (SNAI1) gene.

作者信息

Okajima K, Paznekas W A, Burstyn T, Jabs E W

机构信息

Department of Pediatrics, Center for Craniofacial Development and Disorders, and McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287-3914, USA.

出版信息

Mol Cell Probes. 2001 Feb;15(1):53-5. doi: 10.1006/mcpr.2000.0332.

DOI:10.1006/mcpr.2000.0332

PMID:11162080

Abstract

The human SNAIL is an important developmental protein involved in the formation of mesoderm and neural crest. The protein contains three classic and one atypical zinc-finger motif. The SNAI1 gene is composed of three exons. We have identified three SNPs in non-coding regions, two in the 5'UTR and one in intron 1, which can be detected by PCR followed by restriction enzyme digestion. We also identified a GGG/GGGG polymorphism in intron 1. We screened CEPH DNAs for these polymorphisms.

摘要

人类SNAIL是一种重要的发育蛋白，参与中胚层和神经嵴的形成。该蛋白包含三个经典的和一个非典型的锌指基序。SNAI1基因由三个外显子组成。我们在非编码区鉴定出三个单核苷酸多态性（SNP），两个在5'非翻译区（UTR），一个在内含子1中，可通过聚合酶链反应（PCR）随后进行限制性内切酶消化来检测。我们还在内含子1中鉴定出一个GGG/GGGG多态性。我们对CEPH DNA进行了这些多态性的筛查。