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1.
试验旨在检测水牛瘦素（Leptin）基因序列的多态性,为进一步开展水牛标记辅助育种研究奠定基础。运用DNA混合池结合直接测序及高分辨熔解曲线（HRM）法在182头奶水牛个体中进行Leptin基因SNP位点的筛选和分型。结果表明,在试验群体中Leptin基因共发现7个SNPs,位于内含子1、内含子3和外显子3区域,分别是A3123G、A3776G、A4154G、A5228G、A5524C、G5573T和A5751C。除了SNP5和SNP6位点在尼里－拉菲水牛群体中的多态信息含量（PIC）属于低度多态之外,所有SNPs位点在3个水牛群体中均属于中度多态。经χ2检验,所有SNPs位点的突变在尼里－拉菲水牛群体均达到Hardy-Weinberg平衡状态（P>0.05）。本研究成功筛查7个水牛Leptin基因SNPs位点并进行了基因分型,为下一步开展奶水牛Leptin基因的标记－性状关联分析奠定基础。  相似文献   

2.
应用基质辅助激光解吸电离飞行时间质谱技术(MALDI-TOF-MS)检测水牛黑素皮质素受体4(MC4R)基因的多态性(SNPs),为今后建立水牛辅助标记选择策略奠定基础。以水牛MC4R基因序列为模板,利用PCR扩增测序法筛查了水牛MC4R基因13个SNPs。为进一步验证筛选的可靠性,应用MALDI-TOF-MS针对380头水牛检测了8个标记的基因型。结果显示,平均检出率为98.0%,能够准确的检测出3种常见的基因型。所检SNP位点的平均最小等位基因频率(MAF)为0.24,平均杂合度为0.28,平均多态信息含量(PIC)为0.23。本研究建立的基于PCR测序法联合MALDI-TOF-MS检测水牛MC4R基因多态性的方法,具有快速、可靠和准确的特点,为今后开展水牛生产性状基因的SNP分型和检测等研究奠定了基础。  相似文献   

3.
The study used matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF-MS) for rapid determination of single nucleotide polymorphisms (SNPs) in buffalo MC4R gene,which provided a foundation for constructing the marker-assisted selection(MAS)strategy.The cDNA sequence of buffalo MC4R gene was screened rapidly based on PCR amplification and sequencing method,and in which 13 SNPs were found.To further identify the reliability of screening system,8 SNPs were genotyped in 380 buffaloes using the MALDI-TOF-MS technology.The results revealed that 8 SNPs had an average of 98.0% in call rate,and in which three genotypes could be accurately distinguished.The average minor allele frequency (MAF),average heterozygosity and polymorphism information content (PIC) value of the 8 markers was 0.24,0.28 and 0.23,respectively.Our findings indicated that the rapid determination method of MALDI-TOF-MS with PCR and sequencing with highly accurate properties was a useful tool for identifying the SNPs of buffalo MC4R gene that laid the foundations for studying SNP genotype in buffalo genes associated production traits.  相似文献   

4.
The objective of this study was to detect insulin-like growth factor 1 receptor (IGF1R) polymorphisms, their allele, and genotype frequencies and to determine associations between these polymorphisms and growth traits in Egyptian water buffalo. Three loci of the IGF1R coding region were amplified by RT-PCR and, subsequently, subjected to sequence analysis, followed by single-strand conformation polymorphism to identify different allelic patterns. A total of 11 novel polymorphisms were detected; 6 SNPs among Egyptian water buffaloes and 5 polymorphisms compared with Indian buffalo (Y12700). Three of those polymorphisms; GAG Indel polymorphism, C261G, and G263C SNPs, were nonsynonymous mutations. The GAG Indel polymorphism led to deletion of E (glutamic) amino acid (aa) in the IGF1R of Egyptian water buffaloes compared with Indian buffalo. However, C261G SNP, which replaced A (alanine) by G (glycine) aa, and G263C SNP, which changed A (alanine) to P (proline) aa, were detected among Egyptian water buffaloes. Three different single-strand conformation polymorphism patterns were observed in exon 21: CC/CC, GG/GG, and CG/GC with frequencies of 0.291, 0.253, and 0.556, respectively. The heterozygous animals (CG/GC) had a higher ADG than homozygous animals (CC/CC and GG/GG) from birth to 6 mo of age. We conclude that the heterozygous haplotype, C261G/G263C, in exon 21 of the IGF1R gene is associated with the ADG during the early stages of life (from birth to 6 mo of age) and could be used as a genetic marker for selection of growth traits in Egyptian buffalo.  相似文献   

5.
本研究旨在检测水牛二酰甘油酰基转移酶2（diacylglycerolacylt-ransferase,DGAT2）基因的单核苷酸多态性（SNP）,探究摩拉水牛多态性位点的群体遗传特征。以广西水牛研究所的57头摩拉水牛为材料,PCR扩增DGAT2基因的部分序列（外显子2及内含子2、3）,通过常规测序法检测其SNP,并运用遗传多样性分析软件（POPGENE）和SPSS软件对群体的多态性位点进行基因频率、基因型频率、多态信息含量（PIC）、有效等位基因数（Ne）及遗传杂合度（He）的检测。结果表明,在摩拉水牛DGAT2基因外显子2和内含子2、3上共发现了9个SNPs位点（IVS2.54 G > A、IVS2.158 A > G、EVS2.191 A > G、EVS2.228 A > G、IVS3.311 C > T、IVS3.444 A > G、IVS3.451 A > C、IVS3.466 C > T、IVS3.521 C > T）,其中EVS2.191 A > G位点的突变导致氨基酸由异亮氨酸突变为缬氨酸,突变位点间存在一定程度的连锁遗传但接近连锁平衡状态。从基因频率上看,IVS2.158 A > G、EVS2.191 A > G、IVS3.311 C > T、IVS3.451 A > C、IVS3.466 C > T和IVS3.521 C > T 6个SNPs位点的两个等位基因频率有较大差异,提示等位基因频率较大的基因个体可能更适合生存。9个SNPs位点在摩拉水牛品种上多处于高度多态,杂合度在0.1744~0.4975之间,说明摩拉水牛群体中DGAT2基因遗传多态性丰富,具有较大的育种价值和性状改良潜力。  相似文献   

6.
The present study aimed at identifying single-nucleotide polymorphic (SNP) sites in different coding and non-coding regions of lactoferrin gene in Indian riverine buffaloes. A total of 102 animals from six different river buffalo breeds were screened at six bubaline lactoferrin gene loci. Single-strand conformation polymorphism (SSCP) analysis revealed monomorphic patterns at three loci LtfE2, LtfE11, and LtfE14 while a total of eight distinct patterns were observed in the other three loci viz. LtfE5, LtfE10, and LtfE16 which correspond to respective exons and their flanking regions. Sequence analysis of different SSCP variants revealed the presence of two SNP sites within the coding (exon 16) region and five SNP sites in flanking non-coding regions (intron 4 and intron 9). Both SNPs within exon 16 were found to be synonymous. The SNPs and haplotypes identified in the present study could serve as potential markers for association with susceptibility/resistance to mastitis in buffaloes.  相似文献   

7.
为研究水牛蛋白激酶AMP活化的催化亚基α2（protein kinase AMP-activated catalytic subunit alpha 2,PRKAA2）基因多态性,本试验以摩拉水牛和尼里-拉菲水牛基因组DNA为模板,扩增PRKAA2基因外显子4及内含子3部分序列,通过常规测序法检测其SNP并进行遗传多样性分析。结果发现,PRKAA2基因外显子4内存在1个SNP位点（c.462 G>A）,PRKAA2基因内含子3部分序列存在3个SNPs位点（IVS3.557 T>C、IVS3.560 C>T和IVS3.565 G>A）。经遗传多样性分析表明,在c.462 G>A位点的野生纯合型和杂合型比突变纯合型更有优势,IVS3.557 T>C和IVS3.560 C>T位点的突变纯合型为非优势基因型,IVS3.565 G>A位点杂合型为优势基因型。IVS3.565 G>A位点在摩拉水牛群体中处于Hardy-Weinberg非平衡状态;c.462 G>A位点在尼里-拉菲水牛群体中处于Hardy-Weinberg非平衡状态。4个SNPs位点在摩拉水牛群体中均为中度多态;c.462 G>A、IVS3.557 T>C位点在尼里-拉菲水牛群体中为低度多态,IVS3.560 C>T、IVS3.565 G>A位点为中度多态。IVS3.557 T>C位点在两个水牛群体中杂合度较低。说明摩拉水牛IVS3.565 G>A位点和尼里-拉菲水牛c.462 G>A位点的基因型频率和基因频率遗传状态不平衡,尼里-拉菲水牛群体中IVS3.557 T>C位点遗传变异小,选择潜力不高。4个多态位点可以构建5种单倍型,其中T-C-G-G是摩拉水牛群体和尼里-拉菲水牛群体的优势单倍型。综上,本研究检测的摩拉水牛和尼里-拉菲水牛PRKAA2基因上4个SNPs位点可为水牛标记辅助选择育种提供参考。  相似文献   

8.
[目的]脂肪酸合成酶(Fatty acid synthase,FASN)是影响哺乳动物脂肪酸合成的关键酶,但有关水牛FASN基因的群体遗传组成特征还不清楚。[方法]本研究采用PCR产物直接测序法和PCR-SSCP方法对88头河流型和122头沼泽型水牛、54头牦牛和40头大额牛FASN基因外显子37进行群体变异检测,并结合已发表的牛科物种序列进行生物信息学分析。[结果]结果表明,仅在水牛中发现2个SNP位点,为c.6363CT和c.6372CT,均为同义替换。河流型和沼泽型水牛共享这2个SNP位点,但它们在两类水牛中的群体遗传组成不同。确定水牛特有的核苷酸位点3个,即c.6183A,c.6255T和c.6394A,其中c.6394A导致水牛FASN蛋白第2132位氨基酸与其它牛科物种不同,在水牛中为M而其它牛科物种中为V;山羊特有的位点2个,为c.6189A和c.6267T。普通牛、山羊和绵羊中具有异义替换SNP位点,分别为1个、3个和7个。普通牛的异义替换SNP位点c.6365GA对蛋白质功能影响不显著(subPSEC-3);山羊的这些异义替换SNP位点c.6296TC、c.6301CT和c.6341TC对其蛋白质功能影响均有显著影响(subPSEC-3);绵羊7个异义替换SNP位点中的2个,即c.6286AC和c.6406AG对FASN功能有显著影响(subPSEC-3)。[结论]这些核苷酸差异引起的氨基酸差异可能引起不同牛科物种间FASN功能的差异。  相似文献   

9.
试验旨在探索WNT4和HOXC13基因多态性及其对西藏绒山羊绒毛纤维直径性状的影响，寻找与西藏绒山羊绒毛纤维直径性状相关的分子标记。以380只1岁西藏绒山羊群体为研究对象，利用混池DNA直接测序法检测WNT4和HOXC13基因的SNP，利用飞行时间质谱技术对SNP分型，利用SAS 9.1软件中最小二乘方差模型对SNP位点与绒毛平均纤维直径、纤维直径标准差、纤维直径变异系数进行关联分析。结果表明，WNT4基因第3外显子区域检测到2个SNPs位点（SNP1和SNP2），HOXC13基因第2外显子区域检测到2个SNPs位点（SNP3和SNP4），均处于中度多态（0.25 < PIC < 0.50）。χ2检验表明，群体中WNT4基因的SNP1和SNP2位点均处于Hardy-Weinberg不平衡状态（P < 0.05）。关联分析结果表明，4个SNPs位点均与平均纤维直径呈极显著相关（P < 0.01），SNP2和SNP3与纤维直径标准差呈极显著相关（P < 0.01），SNP2与纤维直径变异系数呈极显著相关（P < 0.01）。综上，WNT4和HOXC13基因对西藏绒山羊绒毛纤维直径有显著影响，可以尝试将其SNPs位点作为影响西藏绒山羊绒毛纤维直径的分子标记之一，为超细型西藏绒山羊选育工作提供理论依据。  相似文献   

10.
The leptin receptor (LEPR) gene is considered a candidate gene for fatness traits. It is located on SSC 6 in a region in which quantitative trait loci (QTLs) for backfat thickness (BF), fat area ratios, and serum leptin concentration (LEPC) have previously been detected in a Duroc purebred population. The objectives of the present study were to identify porcine LEPR polymorphisms and examine the effects of LEPR polymorphisms on fatness traits in this same population. The Duroc pigs (226 to 953 pigs) were evaluated for BF, fat area ratios using image analysis, and LEPC. A total of seven single nucleotide polymorphisms (SNPs) in the full‐length LEPR coding region were identified in pigs from the base population. Four non‐synonymous SNPs of the LEPR gene and 15 microsatellite markers on SSC 6 were then genotyped in all pigs. During candidate gene analysis, we detected significant effects of the non‐synonymous SNP c.2002C>T in exon 14 on all traits. In fine mapping analysis, significant QTLs for BF, fat area ratios, and LEPC were detected near the LEPR gene in the same region. These results indicated that the c.2002C>T SNP of LEPR has a strong effect on BF, fat area ratios and LEPC.  相似文献   

11.
The research was aimed to analyze the association of Leptingene and breed traits on pigs. Three pairs of primers were designed which based on DNA sequence of pig Leptin gene (GenBank accession No.U66254, AF026976),the single nucleotide polymorphisms (SNPs) of Leptin gene were detected by PCR-SSCP in Sujiang and Jiangquhai pigs. The results showed that three genotypes of AA,AB and BB were identified, and the mutation (T3469C) in CDS of Leptin gene was found,but amino acid change weren't happened. The Chi-square test results showed that the Leptin genotype distribution of Sujiang and Jiangquhai pigs was in Hardy-Weinberg equilibrium (P>0.05). The polymorphism information content (PIC) were moderate polymorphism in Sujiang pigs,and low polymorphism in Jiangquhai pigs. The statistic analysis results showed that there were no significant association between the SNP of Leptin genotype and litter size trait(P>0.05). But the average litter size of T3469C site AB genotype was higher than AA and BB genotypes, it was concluded that the T3469C polymorphism of Leptingene might be the genetic marker which potentially affected pig breed traits.  相似文献   

12.
试验旨在探究Leptin基因对猪产仔性状的影响,为其新品种持续选育提供遗传学依据。参考GenBank发布的猪Leptin基因DNA序列（登录号:U66254、AF026976）设计3对引物,采用PCR-SSCP技术分析Leptin基因在苏姜猪和姜曲海猪中的单核苷酸多态性（SNP）,并用统计学方法分析基因座多态性与产仔性状的相关性。结果发现,Leptin基因在苏姜猪、姜曲海猪群体中均具有多态性,检测到3种基因型:AA、AB和BB;测序结果发现,编码区第3 469位碱基处发生单碱基突变（T3469C）,为同义突变。χ2适合性检验显示,2个猪种Leptin基因型分布处于Hardy-Weinberg平衡（P>0.05）。多态信息含量（PIC）分析显示,苏姜猪为中度多态,姜曲海猪为低度多态。Leptin基因型与产仔性状关联分析显示,不同基因型间产仔性状差异不显著（P>0.05）,但T3469C位点AB基因型平均产仔数较AA和BB基因型高,初步推断Leptin基因T3469C位点可能是影响猪产仔性状潜在的遗传标记,建议做进一步的研究。  相似文献   

13.
Fatty acid composition is an important indicator of beef quality. The objective of this study was to search the potential candidate region for fatty acid composition. We performed pool‐based genome‐wide association studies (GWAS) for oleic acid percentage (C18:1) in a Japanese Black cattle population from the Hyogo prefecture. GWAS analysis revealed two novel candidate regions on BTA9 and BTA14. The most significant single nucleotide polymorphisms (SNPs) in each region were genotyped in a population (n = 899) to verify their effect on C18:1. Statistical analysis revealed that both SNPs were significantly associated with C18:1 (p = .0080 and .0003), validating the quantitative trait loci (QTLs) detected in GWAS. We subsequently selected VNN1 and LYPLA1 genes as candidate genes from each region on BTA9 and BTA14, respectively. We sequenced full‐length coding sequence (CDS) of these genes in eight individuals and identified a nonsynonymous SNP T66M on VNN1 gene as a putative candidate polymorphism. The polymorphism was also significantly associated with C18:1, but the p value (p = .0162) was higher than the most significant SNP on BTA9, suggesting that it would not be responsible for the QTL. Although further investigation will be needed to determine the responsible gene and polymorphism, our findings would contribute to development of selective markers for fatty acid composition in the Japanese Black cattle of Hyogo.  相似文献   

14.
利用PCR-SSCP技术对萨福克、陶赛特、得克塞尔及滩羊4个绵羊品种358个个体Leptin基因等2、3外显子进行多态性分析,共检测到7个SNPs,其中新发现5个SNPs。测序结果表明,在外显子2上无突变。内含子2上存在A99G、G115A、C150T、C171T位点。外显子3上,存在G271A;C316A;G387T位点。外显子3上的SNPs使编码的氨基酸发生变化。统计分析表明A99G、C150T和A99G＋C150T位点与生长发育性状存在相关性。在A99G位点,Aa基因型初生质量、日增质量、体高、胸围和尻宽指标上均高于AA基因型,初生质量、日增质量和体高指标差异显著（P〈0．05）,胸围和尻宽指标差异极显著（P〈0．01）。C150T和A99G＋C150T位点结果一致,突变基因型日增重、体高、体长、胸围和尻宽指标均高于野生基因型,差异显著（P〈0．05）。  相似文献   

15.
【目的】研究水牛主要促进因子超家族成员2a(major facilitator superfamily domain containing 2a,MFSD2A)基因多态性,并筛选与水牛产奶性状相关联的SNP。【方法】采集383头健康水牛血液DNA,利用PCR扩增和Sequenom MassARRAY飞行时间质谱技术对SNP位点进行筛选及基因型检测,并进行遗传多样性、连锁不平衡(LD)和单倍型分析,以及对不同基因型和单倍型与水牛产奶性状进行关联分析。【结果】在水牛MFSD2A基因中检出7个SNPs位点,多态信息含量(PIC)均在0.25~0.40之间,属于中度多态,除g.8290 T＞C位点外,其余位点均处于Hardy-Weinberg平衡状态(P＞0.05);关联分析结果表明,这7个SNPs位点与305 d产奶量均显著关联(P＜0.05),且突变杂合子基因型的305 d产奶量是3种基因型中最低的,g.568 C＞G和g.701 A＞G位点与乳脂率显著关联(P＜0.05),乳脂率从大到小依次为突变纯合子＞野生纯合子＞突变杂合子,g.568 C＞G、g.3326 G＞A、g.8290 T＞C和g.8523 C＞G位点与乳蛋白率显著关联(P＜0.05),7个SNPs位点与乳尿素氮关联均不显著(P＞0.05);连锁不平衡和单倍型分析结果明,g.568 C＞G、g.701 A＞G和g.3203 T＞G位点可组成一个单倍型模块(Block 1),g.8523 C＞G和g.9138 G＞T位点可组成另一个单倍型模块(Block 2)。其中g.568 C＞G和g.701 A＞G、g.568 C＞G和g.3326 G＞A、g.8523 C＞G和g.9138 G＞T位点的r2分别为0.87、0.37和0.48,处于强连锁不平衡状态。Block 1中的H1(CAG)单倍型乳蛋白率显著高于H2(CAT)和H3(GCT)(P＜0.05),Block 2中的D3(GG)单倍型305 d产奶量极显著高于D1(CG)和D2(CT)(P＜0.01)。【结论】筛选出的MFSD2A基因7个SNPs位点与305 d产奶量均显著关联,g.568 C＞G和g.701 A＞G位点与乳脂率显著关联,g.568 C＞G、g.701 A＞G、g.3326 G＞A、g.8290 T＞C和g.8523 C＞G位点与乳蛋白率显著关联,这7个SNPs位点与乳尿素氮均无显著关联。纯合子的基因型在高305 d产奶量和乳脂率的选择上更有优势,H1(CAG)和D3(GG)单倍型是提高水牛305 d产奶量和乳蛋白率的有利单倍型。  相似文献   

16.
The aim of this paper was to characterize the diversity among haplotypes based on 22 single nucleotide polymorphisms (SNPs) and one deletion within four casein genes in two geographically distant goat populations, the Sicilian Girgentana breed and the Norwegian goat breed. Forty Girgentana goats were genotyped for the aforementioned polymorphisms and the resulting data set was compared with 436 goats from the Norwegian population previously genotyped for these markers. Several casein gene polymorphisms were not in Hardy-Weinberg equilibrium either in Girgentana, or in the Norwegian breed. The SNP haplotype frequencies for the four casein genes were calculated and despite the large geographical distance and phenotypic divergence between these breeds, a proportion of casein loci haplotypes were found to be identical between both Norwegian and Girgentana goats. However, for the CSN2 gene there were no common haplotypes between the two populations. The level of linkage disequilibrium between the casein genes was less in the Girgentana population than in the Norwegian population.  相似文献   

17.
试验旨在探讨PRKAA2基因在摩拉水牛群体中的遗传多态性及其与生长性状的关联性,进而得到显著相关的遗传标记,为摩拉水牛的分子标记辅助选择提供理论依据。利用DNA测序法等技术进行候选基因PRKAA2外显子4及部分内含子3单核苷酸多态性（SNPs）检测,并采用生物信息学方法结合统计软件分析PRKAA2基因与摩拉水牛生长性状的关联性。结果显示,摩拉水牛PRKAA2基因中共检测到4个SNPs位点：c.462 G>A、IVS3.557 T>C、IVS3.560 C>T和IVS3.565 G>A,均包含3种基因型,且符合Hardy-Weinberg平衡。4个SNPs位点在水牛群体中均为中度多态,可以构建3种单倍型,T-C-G-G为优势单倍型,其中IVS3.560 C>T与c.462 G>A位点之间存在完全连锁不平衡,关联分析结果显示,单倍型H2与摩拉水牛体斜长和腰角宽呈显著相关（P<0.05）。c.462 G>A位点与摩拉水牛体高、十字部高、尻长、坐骨端宽和腰角宽呈显著相关,其中GG和AA基因型个体的体高和十字部高均显著高于GA基因型个体,GG基因型个体的尻长显著高于GA和AA基因型个体,AA基因型个体的坐骨端宽和腰角宽显著高于GA基因型个体（P<0.05）;IVS3.557 T>C位点与摩拉水牛的生长性状指标未达到显著相关（P>0.05）;IVS3.560 C>T位点与摩拉水牛体高、十字部高和尻长呈显著相关,其中CC和TT基因型个体的体高和十字部高均显著高于CT基因型个体,CC基因型个体的尻长显著高于CT基因型个体（P<0.05）;IVS3.565 G>A位点与体斜长呈显著相关,其中GG和GA基因型个体的体斜长显著高于AA基因型个体（P<0.05）。综上,PRKAA2基因的c.462 G>A、IVS3.560 C>T和IVS3.565 G>A位点对摩拉水牛部分生长性状均有显著影响,可作为摩拉水牛品种早期选育的候选基因和分子辅助标记。  相似文献   

18.
Leptin gene has been found to be associated with various economic traits including milk production and fat quality in dairy animals. In the present study, we investigated genetic variations in intron 1 region of leptin gene in riverine buffaloes (Bubalus bubalis) using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and sequencing methods and associated them with milk traits. The study revealed three SSCP variants A, B and C among a total of 301 buffaloes from nine breeds. The frequency of variant C was found invariably high among all the breeds except in Marathwada buffalo. Variant A was found to be absent in Chilika, Nili-Ravi, Nagpuri and Pandharpuri breeds and also had the lowest frequencies in Mehsana, Jaffarabadi, Murrah and Toda breeds. Sequencing of SSCP variants revealed a total of five polymorphic sites, with three haplotypes. Statistical analysis revealed significantly high fat percentage at 150?days in SSCP variant B in Mehsana buffaloes. However, the associations of SSCP variants of leptin gene with total milk yield, 305?days milk yield and total fat yield were found to be non-significant. The present study is the first report on association analysis of leptin gene polymorphisms with milk production and milk quality traits in river buffalo.  相似文献   

19.
Boar reproductive traits are economically important for the pig industry. Here we conducted a genome‐wide association study (GWAS) for 13 reproductive traits measured on 205 F2 boars at day 300 using 60 K single nucleotide polymorphism (SNP) data imputed from a reference panel of 1200 pigs in a White Duroc × Erhualian F2 intercross population. We identified 10 significant loci for seven traits on eight pig chromosomes (SSC). Two loci surpassed the genome‐wide significance level, including one for epididymal weight around 60.25 Mb on SSC7 and one for semen temperature around 43.69 Mb on SSC4. Four of the 10 significant loci that we identified were consistent with previously reported quantitative trait loci for boar reproduction traits. We highlighted several interesting candidate genes at these loci, including APN, TEP1, PARP2, SPINK1 and PDE1C. To evaluate the imputation accuracy, we further genotyped nine GWAS top SNPs using PCR restriction fragment length polymorphism or Sanger sequencing. We found an average of 91.44% of genotype concordance, 95.36% of allelic concordance and 0.85 of r2 correlation between imputed and real genotype data. This indicates that our GWAS mapping results based on imputed SNP data are reliable, providing insights into the genetic basis of boar reproductive traits.  相似文献   

20.
The osteopontin gene may influence the fertility of water buffaloes because it is a protein present in sperm. The aim of this work was to identify polymorphisms in this gene and associate them with fertility parameters of animals kept under extensive grazing. A total of 306 male buffaloes older than 18 months, from two farms, one in the state of Amapá and the other in the state of Pará, Brazil were used in the study. Seven SNPs were identified in the regions studied. The polymorphisms were in gene positions 1478, 1513 and 1611 in the region 5′upstrem and positions 6690, 6737, 6925 and 6952 in the region amplified in intron 5. The SNPs were associated with the traits, namely scrotal circumference, scrotal volume, sperm motility, sperm concentration and sperm pathology. There were significant SNPs (p < 0.05) for all the traits. The SNP 6690 was significant for scrotal circumference, sperm concentration, sperm motility and sperm pathology and the SNP 6737 for scrotal volume. The genotype AA of SNP 6690 presented the highest averages for scrotal circumference, sperm concentration and motility and the lowest total number of sperm pathologies. For the scrotal volume trait, the animals with the largest volume were correlated with the presence of the genotype GG of SNP 6737. These results indicate a significance of the osteopontin gene as it seems to exert a substantial influence on the semen production traits of male buffaloes.  相似文献   

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