红眼白水貂FSHβ和NCOA1基因多态性及其与繁殖性状的相关分析

本研究旨在检测红眼白水貂促卵泡激素β（follicle-stimulating hormone beta subunit,FSHβ）和核受体辅激活蛋白1（nuclear receptor coactivator 1,NCOA1）基因多态性与繁殖性状的关系。采用单链构象多态性（SSCP）和DNA测序相结合的方法检测了红眼白水貂215个个体的单核苷酸多态性,针对红眼白水貂群体的特点建立合适的统计分析模型,利用SAS 9.4统计软件对候选基因进行多态性分析,并采用最小二乘法分析了总产仔数和产活仔数的遗传效应。结果表明,在红眼白水貂FSHβ基因上存在2个多态位点,分别为内含子1处的g.1228G > A突变和外显子2处的g.1866T > C突变;在NCOA1基因上存在1个多态位点,为第6外显子处g.151536T > C突变。在红眼白水貂群体中,FSHβ基因的优势基因为B等位基因,NCOA1基因的优势基因为A等位基因;FSHβ基因g.1228G > A位点的AA和AB基因型个体在总产仔数、产活仔数上均极显著高于BB基因型（P < 0.01）,g.1866T > C位点在总产仔数和产活仔数上呈现BB > AB > AA的趋势;NCOA1基因的AB基因型个体的总产仔数和产活仔数均极显著高于AA基因型（P < 0.01）;g.151536T > C与g.1228G > A的合并基因型对繁殖性状有显著影响（P < 0.05）。因此,可以利用以上突变位点对红眼白水貂的繁殖性状进行标记辅助选择研究。     

A genomewide association study in divergently selected lines in rabbits reveals novel genomic regions associated with litter size traits

Uterine capacity (UC), defined as the total number of kits from unilaterally ovariectomized does at birth, has a high genetic correlation with litter size. The aim of our research was to identify genomic regions associated with litter size traits through a genomewide association study using rabbits from a divergent selection experiment for UC. A high-density SNP array (200K) was used to genotype 181 does from a control population, high and low UC lines. Traits included total number born (TNB), number born alive (NBA), number born dead, ovulation rate (OR), implanted embryos (IE) and embryo, foetal and prenatal survivals at second parity. We implemented the Bayes B method and the associations were tested by Bayes factors and the percentage of genomic variance (GV) explained by windows. Different genomic regions associated with TNB, NBA, IE and OR were found. These regions explained 7.36%, 1.27%, 15.87% and 3.95% of GV, respectively. Two consecutive windows on chromosome 17 were associated with TNB, NBA and IE. This genomic region accounted for 6.32% of GV of TNB. In this region, we found the BMP4, PTDGR, PTGER2, STYX and CDKN3 candidate genes which presented functional annotations linked to some reproductive processes. Our findings suggest that a genomic region on chromosome 17 has an important effect on litter size traits. However, further analyses are needed to validate this region in other maternal rabbit lines.     

大白猪和长白猪EPOR基因第4内含子多态性与繁殖性状的关联分析

本研究以大白猪和长白猪为研究对象,以促红细胞生成素受体（erythropoietin receptor,EPOR）基因作为产仔性状的候选基因,采用PCR-SSCP方法来检测EPOR基因第4内含子C＼T突变多态性,研究此位点多态性与猪繁殖性状之间的关联性。结果发现,在长白猪和大白猪中存在AA、AB和BB共3种基因型,在2个群体中处于中度多态。利用SAS 8.0软件采用最小二乘法拟合线性模型,将不同基因型与总产仔数（TNB）、产活仔数（NBA）和初生重（WB）进行了关联分析,结果表明,长白猪初产母猪BB基因型个体的WB显著高于AB、AA基因型个体（P＜0.05）;经产母猪BB基因型个体的TNB显著高于AB基因型个体（P＜0.05）;B等位基因对初产母猪TNB、NBA和WB均表现为正效应。大白猪初产母猪BB基因型个体的TNB、NBA和WB都高于AA型和AB型个体,但差异均不显著（P＞0.05）;经产母猪AB基因型个体的WB显著高于AA基因型个体（P＜0.05）;B等位基因对初产母猪TNB、NBA和WB都表现为正效应。     

Effect of RNF4-SacII gene polymorphism on reproductive traits of Landrace × Large White crossbred sows

The aim of the present study was to investigate whether and to what extent the RNF4-SacII gene polymorphism influences reproduction performances in hyperprolific sow lines. The study involved 101 Landrace x Large White crossbred sows, with 461 records collected on the following reproductive traits: Total Number of piglets Born per litter (TNB), Number of piglets Born Alive per litter (NBA), Number of StillBorn piglets per litter (NSB), piglet Pre-Weaning Mortality (PWM) and Number of piglets at Weaning per litter (NW). The least square method with the GLM procedure in SAS with eight effects was used to pursue the data analysis. Study results revealed that TT homozygotes and TC heterozygotes had a significantly higher (p < .05) NW than CC homozygotes for the life-span performance in all parities and first parity analysed. In the fourth parity analysed, TNB and NBA in TC genotype were significantly higher (p < .05) as compared with TT genotype. Based on the life-span performance, significant effect (p < .05) was recorded for order of parity on TNB, NBA and NW, for farrowing season on TNB and NSB, and for lactation length on PWM. In the second parity, significant effect (p < .05) was recorded for sire of boar on NSB and for gestation length on TNB. Only in the fourth parity, significant effect (p < .05) of RNF4 gene was observed on NBA. There was significant additive effect (p < .05) of the RNF4 gene polymorphism identified on NW in all parities analysed, and significant additive and dominance effects (p < .05) on NSB in the third parity analysed. In conclusion, additional research on related production pig genotypes is necessary to elucidate the effect of RNF4 gene mutation on reproductive traits.     

Comparison of genetic improvement for litter size at birth by direct and indirect selection in swine herd

Responses to selection for number of piglets born alive (NBA) by the total number of piglets born (TNB), the NBA, and the NBA plus number of piglets born dead (NBD) were compared using the accuracy of selection and expected genetic gain calculated from the selection index with family information and the real response to selection, using data generated by Monte Carlo computer simulation. The accuracy of selection for NBA selected by TNB was higher than that by NBA only if the genetic correlation between TNB and NBA was close to 1.0, or the value of heritability for the TNB was much larger than that for the NBA. The accuracy of selection for the NBA selected by the combination of the TNB and the NBA was generally highest in the three selection methods in each family structure. Selection by the TNB resulted in the greatest expected genetic gain for the TNB among the selection methods. In the best linear unbiased prediction (BLUP) selection, the genetic gain for the NBA accumulated by the NBA tended to be similar to that accumulated by the combination of the NBA and the NBD, and both genetic gains at generation 10 were significantly larger than that by the TNB (P < 0.001). The accumulated responses selected by the two‐trait animal model BLUP estimated from genetic parameters with errors were similar to those estimated from the true parameters, and there was no significant difference between them. These results indicate that selection by the NBA or by the NBA and the NBD gives more genetic improvement in the NBA than that by the TNB.     

Analysis of properdin (BF) genotypes associated with litter size in a commercial pig cross population

Properdin (BF) was investigated as a candidate gene influencing litter size in a commercial pig cross population. The BF gene was chosen because of its integral role in influencing uterine epithelium growth and because several quantitative trait loci (QTL) with impact on reproductive traits have been detected near the centromere of porcine chromosome 7. A total of 123 F₂ (Large White × Landrace) × Leicoma sows were genotyped using polymerase chain reaction–restriction fragment length polymorphism (PCR–RFLP) method. The sows were divided into two extreme performance groups, one with a high litter size (n = 61, ≥14.3 piglets per litter) and the other with a low litter size (n = 62, ≤11.3 piglets per litter). Although genotype and allele frequencies were uneven with 2.4% (AA), 16.3% (AB), 81.3% (BB) and 0.11 (A): 0.89 (B), the allele A was the unfavourable one, leading to less offspring. With regard to the level of significance at p < 0.05, the total number of born (TNB) and number of born alive (NBA) piglets were associated with BF genotypes. The genotype AA led to 10.55 TNB and 10.00 NBA, whereas the genotype BB led to 13.19 TNB and 12.11 NBA. The genotype AB was intermediate. In future, a systematic mating test is necessary in order to obtain more balanced genotype frequencies. Furthermore, it should be taken into consideration that the investigated polymorphism is located in an intronic region and the causative mutation is not clear yet.     

Effect of the polymorphism of prolactin receptor (PRLR) and leptin (LEP) genes on litter size in Polish pigs

The aim of the experiment was to use the DNA mutations in the PRLR and LEP genes to determine associations between the genotype and litter size in Polish Large White × Landrace sows. Reproductive traits investigated were: total number of piglets born (TNB), number of piglets born alive (NBA) and number of piglets weaned. The polymorphism in PRLR and LEP genes was detected using the polymerase chain reaction–restriction fragment‐length polymorphism (PCR‐RFLP) method, with specific primers and the restriction enzymes AluI and HinfI respectively. Two different alleles of PRLR and LEP gene were identified: alleles A (0.62) and B (0.38) of the PRLR gene and alleles C (0.10) and T (0.90) of the LEP gene. The relationships between the PRLR and LEP genotypes and TBN, NBA and NW were analysed. The analysis showed, in first parity sows, statistically significant (p ≤ 0.01) differences between sows carrying different PRLR genotypes. In later parities, sows with the AA genotype still had the largest litter size compared with AB and BB sows, but the difference was statistically not significant. Analysis of the interaction PARITY × PRLR showed small and statistically not significant differences. The analysis of relationship between different LEP genotypes and TNB, NBA, NW showed small and statistically non‐significant differences.     

Selection potential of different prolificacy traits in the finnish landrace and large white populations

Heritabilities and genetic correlations for different prolificacy traits were estimated to assess possibilities of selection for high number of piglets weaned. Three litter-size traits: total number of piglets born (TNB), number of piglets born alive (NBA), number of piglets weaned (NW); four piglet survival traits: number of stillborn piglets (NSB), percent of stillborn piglets (NSB%), piglet mortality between birth and weaning (PM), percent of dead piglets during suckling (PM%); and three traits measuring time intervals: age at first farrowing (AFF), first farrowing interval (FFI), and gestation length (GL) were analysed. The Finnish national litter recording scheme provided data on the first parity litters of 11 329 Landrace and 8 362 Large White pigs born between 1986 and 2000. The heritabilitiy estimates were moderate for AFF and GL (0.24–0.37), and low for all the other traits (0.03–0.11). The genetic correlations between TNB and PM (0.68 in Landrace and 0.43 in Large White) and between NBA and PM (0.64 in Landrace and 0.31 in Large White) suggest that selection only for high TNB or NBA will lead to increased PM. The results showed further that GL will increase indirectly if the selection pressure is for low PM (r _g =?0.050 in Landrace and ?0.43 in Large White.     

荣昌猪初产繁殖性状的全基因组关联研究

旨在鉴定荣昌猪初产繁殖性状的重要变异位点和基因,为荣昌猪繁殖性状的遗传改良提供重要的分子标记和基因资源。本研究选取429头荣昌母猪进行猪50K芯片基因分型,经过质量控制和基因型填充后,保留35 046个SNPs用于分析。采用主成分分析法研究群体结构,利用混合线性模型(mixed-linear model, MLM)将出生年、出生月作为固定效应,将主成分值作为协变量对总产仔数、活产仔数、死胎数和初生窝重性状进行全基因组关联分析(GWAS)。结果显示,在全基因组显著水平上鉴定出2个影响荣昌猪初生窝重的SNPs和1个影响荣昌猪死胎数的SNP;在潜在显著水平上鉴定到5个影响荣昌猪总产仔数的SNPs, 3个影响荣昌猪活产仔数的SNPs和10个影响荣昌猪死胎数的SNPs。通过全基因组关联分析筛选到1个显著的SNP(SSC17:57 315 180 bp)同时影响荣昌猪总产仔数、活产仔数和初生窝重,1个显著的SNP(SSC1:279 214 647 bp)同时影响荣昌猪活产仔数和总产仔数,暗示基因在不同性状间具有一因多效性。本研究根据候选基因的相关分子生物学功能,确定BMP7基因为影响荣昌猪总产仔数...     

Haplotype analysis of β-actin gene for its association with sperm quality and boar fertility

β‐actin (ACTB) was examined as a direct functional candidate gene for the possible association with sperm concentration, motility (MOT), semen volume per ejaculate, plasma droplet rate, abnormal sperm rate (ASR) and the fertility traits, non‐return rate and number of piglets born alive (NBA). Three polymorphisms in intron 3 (T>C) and one polymorphism in exon 4 (T>C) of porcine ACTB gene were identified by comparative sequencing of animals of the breeds Pietrain and Hampshire. Association analysis revealed that haplotypes affected the variation of the traits MOT, ASR and NBA. The beneficial haplotypes may provide considerable improvement of sperm quality and fertility in the tested commercial boar population.     

Detection of novel single-nucleotide polymorphisms (SNPs) in the CYP21 gene and association analysis of two SNPs for CYP21 and ESR2 with litter size in a commercial sow population

Altogether 129 F₁ sows from a commercial sow farm with at least four litters were genotyped for the oestrogen receptor 2 gene (ESR2) and cytochrome P450 hydroxylase 21 gene (CYP21) and investigated for associations on the litter‐size parameters: total number born and number born alive. Five novel polymorphisms were found in the 3′‐untranslated region for the CYP21 gene. Genotype and allele frequencies for the CYP21 (position 3462G > A) single‐nucleotide polymorphism (SNP) were 0.434 (GG), 0.504 (AG), 0.062 (AA) and 0.69 (G):0.31 (A), respectively. No association was found between this polymorphism and litter‐size parameters. For the ESR2 gene, the SNP in exon 5 associated with an amino acid substitution MET (allele A) > VAL (allele G) was investigated. Only two genotypes were found leading to allele frequencies of 0.34 (A):0.66 (G). Only number born alive piglets were significantly increased for the AG genotype (p = 0.034) with 11.64 piglets per sow and litter in comparison with the GG genotype, leading to only 10.96 piglets per sow and litter. From these data, it can be concluded that the investigated SNP of the ESR2 gene is associated with the number of liveborn piglets in the commercial population considered, and hence could be useful in selection for litter size. Therefore, this gene should be investigated in additional populations.     

Identification of mutations of zona pellucida glycoprotein (ZP3) and its association with pig reproductive traits

Reproduction is a complex trait, controlled by genetic and environmental factors. Genetic improvement of this trait is important for animal breeders to improve the animal's production efficiency. Apart from genetic factors, animal production can be affected by environmental factors, i.e. the nursing ability of the sow, which is in turn affected directly by effective teat number (teats producing milk normally, TN) and number of piglets born alive (NBA). The objective of this study was to find new mutations, such as single nucleotide polymorphisms (SNPs) from the Zona Pellucida glycoprotein gene (ZP3) using Single Strand Chain Polymorphism (SSCP) and nucleotide sequencing and to investigate association between genetic variations and sow reproductive traits. We identified 13 new SNPs from exon 1, two new SNPs from intron 2, one SNP from intron 6 and a 18 bp (GCACGTGGTCCTCCTGG)‐deletion/insertion from intron 2 of the ZP3 gene. Five out of these mutations were selected to genotype in five different breeds (Small Meishan, Qingping, Duroc, Landrace and Large White) and association with reproductive traits in European breeds (Duroc, Landrace and Large White). The sows with genotype AA had more 1.11 piglets NBA than of the sows with genotype AB (p < 0.05) in the 18 bp deletion/insertion of intron 2, while non‐significant associations between the other mutations and reproductive traits (NBA and TN) were found.     

Oestrogen receptor genotypes and litter size in Hungarian Large White pigs

A total of 869 litter records of 226 Hungarian Large White sows have been analysed to investigate the possible use of the oestrogen receptor gene (ESR) as marker to improve litter size. First, second and later parities have been evaluated separately. Frequencies of A = 0.55 and B =0.45 have been calculated for the two ESR alleles and the observed/expected number of the three genotypes were as follows: AA: 71/69.1, AB: 108/111.8 and BB: 47/45.1. BB type first and later parity sows were superior to AB and AA sows for number born alive (NBA), total number of born (TNB) and the corrected number of weaned piglets (CNW), respectively.     

Association with TGF‐β1 Gene Polymorphisms and Reproductive Performance of Large White Pig

As a multifunctional cytokine, transforming growth factor‐beta1 (TGF‐β1) was detected in the utero‐placental interface during early pregnancy in the pig and believed to enhance trophoblast attachment to the endometrium. In this experiment, we selected TGF‐β1 as the candidate gene affecting litter size in pigs. Four polymorphic loci of TGF‐β1 gene were found by PCR‐SSCP (single‐strand conformation polymorphism) in Large white sows (n = 567): C→T mutation at 33nt in the intron 4; G→A mutation at 179nt in the intron 6; C→T mutation at 1043nt in the intron 6; GG→AA linkage mutations at 2490nt and 2494nt respectively. We haplotyped these SNPs as: CGCAA (denote as P) and TATGG (denote as K). The effects of three haplotypic combinations (HCs) of PP, PK and KK on litter sizes were investigated by a linear model. It was found that for the first parity litters, the least squares mean for total number born (TNB) of KK was 1.02 piglets/litter, higher than that of PK (p < 0.05), 0.49 piglets/litter higher than that of PP (p > 0.1). There were no significant differences between HCs on the second parity. The result indicated that KK HCs was significantly associated with pig litter size.     

FSHR基因第1外显子多态性及其与小梅山猪产仔数的关系

本研究旨在检测猪FSHR基因第1外显子多态性,并分析其与产仔数之间的关系.采用PCR- SSCP和直接测序方法检测基因多态性,利用最小二乘法分析其与母猪产仔数的关系,同时对多态位点的方差组分进行分析,并预测选择反应.研究结果表明:猪FSHR基因第1外显子区域内检测到3个SNPs(C70T、C74G、C81T),其中C74G导致氨基酸的改变,同时,筛选出3个单倍型和5种基因型;FSHR基因单倍型与基因型分布在小梅山猪、枫泾猪与大白猪群体间差异达到极显著水平(P＜0.01);关联分析结果显示,2胎以上的小梅山母猪中,AA和CC基因型个体的TNB比BC基因型分别低0.64(P＞0.05)和0.36头(P＞0.05),所有胎次中,AA基因型个体的TNB 和NBA比AC基因型分别低0.80(P＜0.01)和0.67头(P＜0.01).对于FSHR基因第1外显子而言,小梅山猪TNB和NBA的遗传主要受到显性效应的影响.     

小梅山猪促卵泡素β基因多态性及其与繁殖性能的关系

用PCR SSCPs法检测小梅山猪母猪群促卵泡素 (FSH) β基因的多态性 ,分析该基因与产仔数和仔猪体重的关系。小梅山猪母猪群FSH β基因N基因频率为 0 .4 14 1,n基因频率为 0 .5 85 9,该基因处于遗传非平衡状态。nn基因型母猪的总产仔数和产活仔数比NN型母猪的分别多 0 .7头和 1.1头 (P <0 .0 5 )。小梅山猪产仔数曲线是开口向下的二次曲线 ,其中nn型母猪具有较理想的产仔模型 ,其拟合的最高产仔数最大 ,且产仔数达高峰后下降较慢。nn型母猪的仔猪初生重比NN基因型母猪的重 (P <0 .0 5 )。杂合型母猪的总产仔数 (12 .38)、产活仔数 (11.6 9)、仔猪初生重 (1.72 )和 35日龄断奶重 (2 0 .16 )比纯合型母猪的大 ,表现出一定的杂合效应。这些结果提示母猪的n等位基因对产仔数和仔猪初生重有利 ,该基因可望用于猪的标记辅助选择     

ESR、FSHβ及OPN基因多态性与母猪繁殖性状的关联分析

采用PCR-RFLP法对大白猪和长白猪猪群进行了雌激素受体基因（ESR）、卵泡促激素β亚基基因（FSHβ）和骨桥蛋白基因（OPN）等3个与繁殖性能相关的基因多态性检测,并对不同基因型的总产仔数、产活仔数及出生窝重进行了相关分析。结果表明：①在长白猪中,ESR和OPN基因的优势基因是A等位基因,FSHβ基因的优势基因是B等位基因;在初产母猪中,ESR基因BB型个体比AA型个体总产仔数、产活仔数及出生窝重高,FSHβ基因AA型个体比BB型个体总产仔数、产活仔数及出生窝重上高,OPN基因BB基因型个体比AA基因型个体总产仔数少1.20头,差异显著（P＜0.05）;在经产母猪中,OPN和FSHβ基因AA型个体比BB型个体总产仔数和产活仔数高,ESR基因总产仔数、产活仔数规律与初产母猪相反。②在大白猪群体中,ESR基因的优势基因是A等位基因,FSHβ和OPN基因的优势基因是B等位基因;在初产母猪中,ESR基因AA型比BB型个体产活仔数和出生窝重高,OPN和FSHβ基因AA型个体比BB型个体总产仔数和产活仔数高;在经产母猪中,ESR、FSHβ及OPN基因全都表现出BB型比AA型个体总产仔数和产活仔数高的趋势。     

Evaluation of genetic trends and determination of the optimal number of cumulative records of parity required in reproductive traits in a Large White pig population

Genetic improvement of the reproductive performance of pigs is important for pig breeding despite their low heritabilities. The objectives of this study were to investigate the effectiveness of selection concerning reproductive traits and to determine the optimal number of parity records required for accurate estimation of breeding values (BVs) in the open population of a commercial pig breeding company. The study used records of 2220 purebred Large White pigs (9845 litters) farrowed between 1998 and 2009 in the two herds of the Pacific Ocean Breeding Co. Ltd. The traits studied included farrowing interval (FI), total number of piglets at birth (TNB), average weaning weight per litter (AWW), and raising rate (RR). A statistical model was applied to the 4‐trait repeatability animal model. The heritabilities of FI, TNB, AWW and RR were low. The genetic trends in TNB (h² = 0.09) showed approximately 1.0 increase in 6 years from 2003 to 2008. The predicted error variances indicated that up to fourth parity records are necessary for accurate genetic evaluation. The present study results indicated that even reproductive traits with low heritability can be improved.     

大白猪、长白猪和杜洛克猪RBP4基因多态性及其与繁殖性能的相关分析

本试验通过PCR-RFLP技术对大白猪、长白猪和杜洛克猪的视黄醇结合蛋白4(retinol binding protein 4,RBP4)基因第4外显子Msp Ⅰ酶切位点进行多态性分析,并对各基因型母猪的第2、3胎次产仔数、产活仔数、断奶仔猪数、初生窝重、21日龄的窝重及断奶成活率进行测定,进而分析RBP4基因多态性与繁殖性能的关系。结果表明,RBP4基因在3个品种中均存在多态位点;χ²适合性检验表明大白猪在该位点偏离Hardy-Weinberg平衡状态(P<0.05),而长白猪和杜洛克猪在该位点处于Hardy-Weinberg平衡状态(P>0.05)。其中,大白猪中优势基因型为BB基因型,而长白猪和杜洛克猪中优势基因型为AA基因型。在繁殖性能上,长白猪BB基因型群体第2胎总产仔数、产活仔数、断奶仔猪数、初生窝重、21日龄断奶窝重分别高于AA基因型0.97头、1.28头、0.92头、1.74 kg和4.42 kg,高于AB基因型0.92头、1.02头、0.98头、1.43 kg和4.98 kg;第3胎次中总体上BB基因型也为有利基因型。     

Effect of Polymorphisms in the Genes for LIF and RBP4 on Litter Size in Two German Pig Lines

The association of two diallelic polymorphisms in the porcine genes for leukaemia inhibitory factor (LIF) and retinol-binding protein 4 (RBP4) with number of piglets born alive (NBA) in two German pig lines was studied. The investigated single nucleotide polymorphism (SNP) in the porcine LIF gene has been located in the 3'-untranslated region of its third exon, whereas the SNP in the RBP4 gene genotyped in this study is intronic. At the LIF locus the allele frequencies were 0.613 for the A allele and 0.387 for the B allele in German Landrace (GL) and 0.276 for A and 0.724 for B in German Large White (GW). At the RBP4 locus, the allele frequencies were 0.586 for the A allele and 0.414 for the B allele in GL and 0.733 for A and 0.267 for B in GW. There was a significant additive effect of the LIF B allele on NBA in GW over all parities (p ≤ 0.05) and a significant positive dominance effect of 0.69 ± 0.22 (p = 0.002) was observed for first parity on NBA in GL. For RBP4, no association of genotypes and NBA was detected in GW but a significant additive effect of the A allele of 0.24 ± 0.11 (p = 0.027) and a significant dominance effect of 0.31 ± 0.13 (p = 0.020) were found in GL over all parities and confirmed through the evaluations by parity.