猪Dppa5, FP和MAL2基因遗传多态性与繁殖性状的关联分析
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摘要
本实验室前期从构建的母猪妊娠相关基因调控网络中筛选出3个功能未知的基因(CK455976、CK465614和CO986776)作为影响繁殖性状的候选基因进行进一步分析,并对3个基因的序列进行了全长克隆,即猪的Dppa5,FP和MAL2基因。本次试验对这3个基因的多态性与母猪繁殖性能之间的关系进行了研究,得到以下结果:
(1)猪Dppa5基因的2个错义突变位点g.363 T>C(Cys 93 Arg)和g.844 G>T (Arg 101 Leu)分别位于第二和第三外显子上。g.363 T>C位点具有低度遗传多样性,其基因频率与基因型频率在北京黑猪和大白猪中均处于Hardy-Weinberg平衡状态(P>0.05);而g.844 G>T位点具有中度遗传多样性,其基因频率与基因型频率在两个猪群中均未达到Hardy-Weinberg平衡状态(P<0.01)。关联分析结果表明,g.363 T>C位点与经产北京黑猪初生窝重显著相关(P<0.05);g.844 G>T位点与经产北京黑猪的总产仔数(P<0.05)和经产大白猪的初生窝重(P<0.01)显著相关。
(2)猪FP基因第一外显子上的同义突变位点g.546 A>G(182 Ser)具有中度遗传多样性,基因频率与基因型频率在北京黑猪和大白猪群体中均处于Hardy-Weinberg平衡状态(P>0.05),与两猪群的繁殖性状没有显著性相关。
(3)猪MAL2基因第三外显子上的2个错义突变位点g.18862 C>A(Gln 138 Lys)和g.18865 C>G(Pro 139 Ala)具有中度遗传多样性。g.18862 C>A位点的基因频率与基因型频率在北京黑猪和大白猪中均处于Hardy-Weinberg平衡状态(P>0.05),而g.18865 C>G位点的基因频率与基因型频率均不处于Hardy-Weinberg平衡状态(P<0.01)。两个多态位点的不同基因型与繁殖性能间没有显著性相关。
以上结果表明,可以将猪Dppa5基因的g.363 T>C和g.844 G>T位点作为育种工作中母猪繁殖性状的遗传标记进行更深入的研究。
In our previous research, a regulatory network on sow gestation was constructed. Three unknown genes (CK455976, CK465614 and CO986776) from the network were selected as candidate genes for reproduction traits, and were cloned as Dppa5, FP, and MAL2. In this study, the associations of polymorphisms of the three genes with reproductive performance of sows were preformed. The results are as following:
(1) Two missense mutations g.363 T>C (Cys 93 Arg) and g.844 G>T (Arg 101 Leu) were found in exon2 and 3 of porcine Dppa5, respectively. The allele frequencies and genotype frequencies of g.363 T>C, which had lower PIC, were in Hardy-Weinberg equilibrium (P>0.05) by chi-square analysis in both Beijing Black and Large White populations. On the contrary, the allele frequencies and genotype frequencies of g.844 T>C were in disequilibrium (P<0.01) in both of the two breeds and had intermediate PIC. The mutation g.363 T>C was associated with litter weight of birth at later parities in Beijing Black pigs significantly (P<0.05). Besides, at later parities, Dppa5 g.844 G>T was associated with total number of birth in Beijing Black pigs (P<0.05) and with litter weight of birth in Large White pigs (P<0.01).
(2) A synonymous mutation g.546 A>G (182 Ser) was detected in exon1 of FP gene. The allele frequencies and genotype frequencies were in Hardy-Weinberg equilibrium (P>0.05) in both Beijing Black and Large White populations by chi-square analysis, and it had intermediate PIC, had no significant relationship with any reproduction traits in both of the two pig populations.
(3) In exon3 of MAL2 gene, two missense mutations, g.18862 C>A (Gln 138 Lys) and g.18865 C>G (Pro 139 Ala), were found with intermediate PIC. In contrast with g.18862 C>A, Hardy-Weinberg disequilibrium (P<0.01) were detected in both allele frequencies and genotype frequencies of g.18865 C>G in the two pig populations. No significant associations among different genotypes of the two polymorphisms with any reproduction traits in both Beijing Black and Large White populations were found.
These results indicated that Dppa5 g.363 T>C and g.844 G>T could be further investigated as genetic markers for sow reproductive performance in breeding.
(1)猪Dppa5基因的2个错义突变位点g.363 T>C(Cys 93 Arg)和g.844 G>T (Arg 101 Leu)分别位于第二和第三外显子上。g.363 T>C位点具有低度遗传多样性,其基因频率与基因型频率在北京黑猪和大白猪中均处于Hardy-Weinberg平衡状态(P>0.05);而g.844 G>T位点具有中度遗传多样性,其基因频率与基因型频率在两个猪群中均未达到Hardy-Weinberg平衡状态(P<0.01)。关联分析结果表明,g.363 T>C位点与经产北京黑猪初生窝重显著相关(P<0.05);g.844 G>T位点与经产北京黑猪的总产仔数(P<0.05)和经产大白猪的初生窝重(P<0.01)显著相关。
(2)猪FP基因第一外显子上的同义突变位点g.546 A>G(182 Ser)具有中度遗传多样性,基因频率与基因型频率在北京黑猪和大白猪群体中均处于Hardy-Weinberg平衡状态(P>0.05),与两猪群的繁殖性状没有显著性相关。
(3)猪MAL2基因第三外显子上的2个错义突变位点g.18862 C>A(Gln 138 Lys)和g.18865 C>G(Pro 139 Ala)具有中度遗传多样性。g.18862 C>A位点的基因频率与基因型频率在北京黑猪和大白猪中均处于Hardy-Weinberg平衡状态(P>0.05),而g.18865 C>G位点的基因频率与基因型频率均不处于Hardy-Weinberg平衡状态(P<0.01)。两个多态位点的不同基因型与繁殖性能间没有显著性相关。
以上结果表明,可以将猪Dppa5基因的g.363 T>C和g.844 G>T位点作为育种工作中母猪繁殖性状的遗传标记进行更深入的研究。
In our previous research, a regulatory network on sow gestation was constructed. Three unknown genes (CK455976, CK465614 and CO986776) from the network were selected as candidate genes for reproduction traits, and were cloned as Dppa5, FP, and MAL2. In this study, the associations of polymorphisms of the three genes with reproductive performance of sows were preformed. The results are as following:
(1) Two missense mutations g.363 T>C (Cys 93 Arg) and g.844 G>T (Arg 101 Leu) were found in exon2 and 3 of porcine Dppa5, respectively. The allele frequencies and genotype frequencies of g.363 T>C, which had lower PIC, were in Hardy-Weinberg equilibrium (P>0.05) by chi-square analysis in both Beijing Black and Large White populations. On the contrary, the allele frequencies and genotype frequencies of g.844 T>C were in disequilibrium (P<0.01) in both of the two breeds and had intermediate PIC. The mutation g.363 T>C was associated with litter weight of birth at later parities in Beijing Black pigs significantly (P<0.05). Besides, at later parities, Dppa5 g.844 G>T was associated with total number of birth in Beijing Black pigs (P<0.05) and with litter weight of birth in Large White pigs (P<0.01).
(2) A synonymous mutation g.546 A>G (182 Ser) was detected in exon1 of FP gene. The allele frequencies and genotype frequencies were in Hardy-Weinberg equilibrium (P>0.05) in both Beijing Black and Large White populations by chi-square analysis, and it had intermediate PIC, had no significant relationship with any reproduction traits in both of the two pig populations.
(3) In exon3 of MAL2 gene, two missense mutations, g.18862 C>A (Gln 138 Lys) and g.18865 C>G (Pro 139 Ala), were found with intermediate PIC. In contrast with g.18862 C>A, Hardy-Weinberg disequilibrium (P<0.01) were detected in both allele frequencies and genotype frequencies of g.18865 C>G in the two pig populations. No significant associations among different genotypes of the two polymorphisms with any reproduction traits in both Beijing Black and Large White populations were found.
These results indicated that Dppa5 g.363 T>C and g.844 G>T could be further investigated as genetic markers for sow reproductive performance in breeding.
引文
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