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在 INHA 和 ACVR2B 基因的外显子中,有三个 SNP 与大足黑山羊的产仔数显著相关。

Three SNPs within exons of INHA and ACVR2B genes are significantly associated with litter size in Dazu black goats.

机构信息

College of Animal Science and Technology, Southwest University, Chongqing, China.

出版信息

Reprod Domest Anim. 2021 Jun;56(6):936-941. doi: 10.1111/rda.13927. Epub 2021 Apr 2.

Abstract

The aim of this study was to analyse the association between single-nucleotide polymorphisms within INHA and ACVR2B and litter size in Dazu black goats. In total, twenty-two SNPs were genotyped in 190 individuals by SNaPshot and resequencing. The results showed that three SNPs (SNP_1, SNP_12 and SNP_13 in this study) were detected to have significant additive genetic effect on the recorded goat litter size (p < .05). The SNP_1 (NC_030809.1), a non-synonymous substitution of G for T at chr2-g. 28314990 in the exon 2 of INHA gene (NM_001285606.1), resulted in homozygote 2 (HOM2) contributed 0.25 and heterozygote (HET) contributed 0.12 larger litter than homozygote 1 (HOM1). Meanwhile, SNP_12 (Chr22-g. 11721225 A > T) and SNP_13 (Chr22-g. 11721227 A > C) (NC_030829.1) simultaneously mutated at the first and third position of a triplet AAA (lysine, K) in the exon 4 of ACVR2B gene (XM_018066623.1) had estimated genetic effects of HOM1 (0.00) and HOM2 (0.03) larger than HET (-0.12). In conclusion, one SNPs (chr2-g. 28314990 T > G) within the exon 2 of INHA and two SNPs (Chr22-g. 11721225 A > T and Chr22-g. 11721227 A > C) in the exon 4 of ACVR2B gene were highly recommended as candidate markers of litter size in Dazu black goats. A large-scale association study to assess the impact of these variants on litter size is still necessary.

摘要

本研究旨在分析 INHA 和 ACVR2B 基因中的单核苷酸多态性与大足黑山羊产羔数的关系。本研究共对 190 只个体的 22 个 SNP 进行了 SNaPshot 和重测序分型。结果表明,3 个 SNP(本研究中的 SNP_1、SNP_12 和 SNP_13)对记录的山羊产羔数具有显著的加性遗传效应(p<.05)。SNP_1(NC_030809.1)位于 INHA 基因外显子 2 的 chr2-g.28314990 处,由 G 突变为 T(NM_001285606.1),导致纯合子 2(HOM2)比纯合子 1(HOM1)多产羔 0.25 只,杂合子(HET)多产羔 0.12 只。同时,SNP_12(Chr22-g.11721225 A>T)和 SNP_13(Chr22-g.11721227 A>C)(NC_030829.1)在 ACVR2B 基因外显子 4 的三联体 AAA(赖氨酸,K)的第 1 和第 3 位同时发生突变(XM_018066623.1),HOM1(0.00)和 HOM2(0.03)的遗传效应估计大于 HET(-0.12)。总之,INHA 基因外显子 2 内的一个 SNP(chr2-g.28314990 T>G)和 ACVR2B 基因外显子 4 内的两个 SNP(Chr22-g.11721225 A>T 和 Chr22-g.11721227 A>C)极有可能成为大足黑山羊产羔数的候选标记。还需要进行大规模的关联研究来评估这些变异对产羔数的影响。

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