山羊CSN1S2基因座两个新等位基因的特征分析

Characterization of two new alleles at the goat CSN1S2 locus.

作者信息

Ramunno L, Cosenza G, Pappalardo M, Longobardi E, Gallo D, Pastore N, Di Gregorio P, Rando A

机构信息

Dipartimento di Scienze Zootecniche e Ispezione degli Alimenti, Università degli Studi di Napoli Federico II, Napoli, Italy.

出版信息

Anim Genet. 2001 Oct;32(5):264-8. doi: 10.1046/j.1365-2052.2001.00786.x.

DOI:10.1046/j.1365-2052.2001.00786.x

PMID:11683712

Abstract

Two novel alleles at the goat CSN1S2 locus have been identified: CSN1S2(F) and CSN1S2(D). Sequence analyses revealed that the CSN1S2(F) allele is characterized by a G --> A transition at the 13th nucleotide in exon 3 changing the seventh amino acid of the mature protein from Val to Ile. The CSN1S2(D) allele, apparently associated with a decreased synthesis of alpha s2-casein, is characterized by a 106-bp deletion, involving the last 11 bp of the exon 11 and the first 95 bp of the following intron. Methods (PCR-RFLP and PCR) for identification of carriers of these alleles have been developed.

摘要

在山羊CSN1S2基因座上已鉴定出两个新的等位基因：CSN1S2(F)和CSN1S2(D)。序列分析表明，CSN1S2(F)等位基因的特征是外显子3中第13个核苷酸处发生G→A转换，使成熟蛋白的第七个氨基酸从缬氨酸变为异亮氨酸。CSN1S2(D)等位基因显然与αs2-酪蛋白合成减少有关，其特征是106 bp的缺失，涉及外显子11的最后11 bp和随后内含子的前95 bp。已开发出鉴定这些等位基因携带者的方法（PCR-RFLP和PCR）。