College of Animal Science and Technology, Southwest University, Chongqing, China.
Reprod Domest Anim. 2021 Jun;56(6):936-941. doi: 10.1111/rda.13927. Epub 2021 Apr 2.
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.
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。
