在牛的CSN3基因座进行的单链构象多态性分析鉴别出了六个与已知蛋白质变体（A、B、C、E、F、G）相对应的等位基因以及三个新的DNA多态性（H、I、A1）。

SSCP analysis at the bovine CSN3 locus discriminates six alleles corresponding to known protein variants (A, B, C, E, F, G) and three new DNA polymorphisms (H, I, A1).

作者信息

Prinzenberg E M, Krause I, Erhardt G

机构信息

Department of Animal Breeding and Genetics, Justus-Liebig-University, Giessen, Germany.

出版信息

Anim Biotechnol. 1999;10(1-2):49-62. doi: 10.1080/10495399909525921.

DOI:10.1080/10495399909525921

PMID:10654430

Abstract

A high resolution SSCP protocol was developed for simultaneous discrimination of the known CSN3 alleles A, B, C, E, F and G. Furthermore, three new DNA polymorphisms were identified in different Bos taurus and Bos indicus breeds or crosses. Mendelian segregation was shown for two of these polymorphisms (named CSN3H and 1), and the third (named CSN3A1) was found in unrelated animals, thus indicating the presence of three additional alleles at the bovine CSN3 locus. DNA sequencing revealed single mutations that led to a Thr/Ile substitution in amino acid position 135 for CSN3H and to a Ser/Ala substitution in position 104 of the deduced amino acid sequence of CSN31 (GenBank accession numbers AF105260 and AF121023) compared to CSN3A. In CSN3A1, a silent mutation in the third codon position of Pro150 was found (GenBank accession number AF092513).

摘要

开发了一种高分辨率SSCP协议，用于同时鉴别已知的CSN3等位基因A、B、C、E、F和G。此外，在不同的牛种（Bos taurus）和瘤牛（Bos indicus）品种或杂交品种中鉴定出三种新的DNA多态性。其中两种多态性（命名为CSN3H和1）表现出孟德尔分离，第三种（命名为CSN3A1）在不相关的动物中被发现，因此表明在牛CSN3基因座处存在另外三个等位基因。DNA测序显示，与CSN3A相比，CSN3H在氨基酸位置135处导致苏氨酸/异亮氨酸取代的单突变，以及CSN31推导氨基酸序列位置104处丝氨酸/丙氨酸取代的单突变（GenBank登录号AF1— 05260和AF121023）。在CSN3A1中，发现Pro150第三个密码子位置的沉默突变（GenBank登录号AF092513）。