几个印度尼西亚牛种群中该基因第一个内含子和外显子的遗传变异。

Genetic variation in the first intron and exon of the gene in several Indonesian cattle populations.

作者信息

Prihandini Peni Wahyu, Primasari Almira, Aryogi Aryogi, Efendy Jauhari, Luthfi Muchamad, Pamungkas Dicky, Hariyono Dwi Nur Happy

机构信息

Beef Cattle Research Institute of Grati, Pasuruan, Indonesia.

Department of Animal Science, Faculty of Agriculture, Universitas Khairun, Ternate, Indonesia.

出版信息

Vet World. 2021 May;14(5):1197-1201. doi: 10.14202/vetworld.2021.1197-1201. Epub 2021 May 19.

DOI:10.14202/vetworld.2021.1197-1201

PMID:34220121

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8243674/

Abstract

BACKGROUND AND AIM

(), a member of the transforming growth factor-b family, is a negative regulator of muscle mass. This study aimed to detect the genetic variation of the 1160 bp fragment of exon 1 and part of intron 1 of the gene in several cattle populations raised in Indonesia.

MATERIALS AND METHODS

Polymerase chain reaction products of the gene amplified from 92 animals representing 10 cattle populations (Peranakan Ongole [PO], Belgian Blue x PO cross, Rambon, PO x Bali cross, Jabres, Galekan, Sragen, Donggala, Madura, and Bali) were sequenced, compared, and aligned with bovine of (GenBank Acc. No. AF320998.1) and (GenBank Acc. No. AY794986.1).

RESULTS

Four nucleotide substitutions (nt 1045 and 1066 in intron 1; nt 262 and 418 in exon 1) and two indels (nt 807 and 869 in intron 1) were synonymous mutations. Among these substitutions, only the nt 262G>C and nt 418A>G loci were polymorphic in all populations, except Bali cattle. The frequencies of the nt 262C (0.82) and nt 418A (0.65) alleles were highest. For the nt 262G>C locus, the CC genotype had the highest frequency (0.66) followed by GC (0.30) and CC (0.03). For the nt 418A>G locus, the AG genotype had the highest frequency (0.52) followed by AA (0.39) and GG (0.09).

CONCLUSION

The results, showing genetic variations in exon 1 and intron 1 of the gene, might be helpful for future association studies.

摘要

背景与目的

转化生长因子-β家族成员（）是肌肉质量的负调节因子。本研究旨在检测印度尼西亚饲养的几个牛群中该基因第1外显子1160 bp片段及部分第1内含子的遗传变异。

材料与方法

对代表10个牛群（佩拉纳坎翁戈尔牛[PO]、比利时蓝牛×PO杂交牛、兰邦牛、PO×巴厘牛杂交牛、贾布雷斯牛、加莱坎牛、斯拉根牛、东加拉牛、马都拉牛和巴厘牛）的92头动物扩增得到的该基因聚合酶链反应产物进行测序、比较，并与牛的（GenBank登录号AF320998.1）和（GenBank登录号AY794986.1）进行比对。

结果

4个核苷酸替换（第1内含子中的nt 1045和1066；第1外显子中的nt 262和418）和2个插入/缺失（第1内含子中的nt 807和869）为同义突变。在这些替换中，除巴厘牛外，仅nt 262G>C和nt 418A>G位点在所有群体中具有多态性。nt 262C（0.82）和nt 418A（0.65）等位基因频率最高。对于nt 262G>C位点，CC基因型频率最高（0.66），其次是GC（0.30）和GG（0.03）。对于nt 418A>G位点，AG基因型频率最高（0.52），其次是AA（0.39）和GG（0.09）。