Major histocompatibility complex locus DRA polymorphism in the endangered Sorraia horse and related breeds

The major histocompatibility complex (MHC) genes play well‐defined roles in eliciting immune responses and combating infectious diseases. This genetic system is among the most polymorphic. The extent of genetic variation within a population has been directly correlated with fitness for many traits. The MHC class II locus DRA polymorphism was analysed in the endangered Sorraia horse, two other Portuguese and four New World horse breeds considered to be historically close to the Sorraia. Comparison of the Sorraia with other breeds demonstrated less MHC variation among Sorraia horses. If DRA polymorphism provides greater disease resistance, selective breeding to increase MHC polymorphism may increase fitness of this population.     

Genetic diversity in Egyptian and Italian goat breeds measured with microsatellite polymorphism.

Seven microsatellite markers were used to study genetic diversity of three Egyptian (Egyptian Baladi, Barki and Zaraibi) and two Italian (Maltese and Montefalcone) goat breeds. The microsatellites showed a high polymorphic information content (PIC) of more than 0.5 in most of the locus-breed combinations and indicated that the loci were useful in assessing within- and between-breed variability of domestic goat (Capra hircus). The expected heterozygosity of the breeds varied from 0.670 to 0.792. In the geographically wider distributed Egyptian Baladi breed there were indications for deviations from random breeding. Analysis of genetic distances and population structure grouped the three Egyptian goat breeds together, and separated them from the two Italian breeds. The studied Mediterranean breeds sampled from African and European populations seem to have differentiated from each other with only little genetic exchange between the geographically isolated populations.     

Genetic variation of adaptation to heat stress in two Spanish dairy goat breeds

Monthly test-day records of milk yield and composition in Murciano-Granadina (MG) and Payoya (PYA) dairy goats were combined with weather data from meteorological stations, to analyse the effects of heat stress on dairy traits, measured with an index of temperature and relative humidity (THI). A 'repeatability animal model' and a 'reaction norm animal model' were used to estimate genetic (co)variance components. Estimates obtained with both models were very similar. The h(2) of daily yields in MG did not vary throughout the THI scale, but the pattern of variation of content traits showed negative trends for increasing THI values. In PYA, a slight positive tendency throughout the THI scale was observed for the same traits. The genetic correlations between subsequent points in the THI scale were lower than 0.80 when they were computed between low and high THI points. The same reaction norm was observed for all traits. Using the 'reaction norm animal model', it was possible to identify those animals that show the same performance throughout the THI trajectory (robust) and those with varying performances (tolerant and non-tolerant to heat stress). Results in this study also show that heat tolerance decreases, while the genetic level for milk traits increases. Losses because of heat stress were equivalent to 1.9 and 3.1% in the yearly yield of fat and protein for MG and PYA, respectively.     

微卫星DNA标记在三个山羊品种中的遗传多态性研究

利用四个微卫星标记对波尔山羊、太行山羊和河北奶山羊的等位基因频率、群体多态信息含量、有效等位基因数和杂合度进行了遗传检测。结果表明：四个微卫星位点在波尔山羊、太行山羊和河北奶山羊三个品种中存在多态性。可以用于山羊遗传多样性的评估；位点OarFCB11变异最大，位点MCM38变异最小，从不同品种来看，太行山羊的遗传变异程度最大，而波尔山羊的遗传变异程度相对较小。     

我国6个绵(山)羊群体遗传分化的微卫星分析

为进一步了解我国绵(山)羊群体的品种特性及其遗传分化,本文利用微卫星标记对我国6个绵(山)羊群体遗传分化进行了分析。采用中心产区典型群随机抽样方法用聚丙烯酰胺凝胶电泳检测乌珠穆沁羊7个微卫星位点,并引用同实验室小尾寒羊、滩羊、湖羊、同羊、长江三角洲白山羊(参照群体)的相关资料进行群体遗传分化水平分析。研究表明:7个微卫星位点在乌珠穆沁羊、小尾寒羊、滩羊、湖羊、同羊、山羊这6个品种中均存在遗传多态性,各座位等位基因均较丰富。根据标准遗传距离、DA遗传距离以及模糊相容关系进行聚类分析,湖羊与同羊首先聚为一类,乌珠穆沁羊和小尾寒羊聚为一类,然后与滩羊聚为一类,5个绵羊品种最后与山羊相聚。     

Genetic diversity at alkB locus in Brucella abortus

DNA polymorphism of the alkB gene, a DNA repair gene, was assessed by PCR on Brucella abortus biovars 1 (strains 99, S19, 45/20, RB51 and 2308), 3 (Tulya strain), 5 (B3196 strain) and 6 (870 strain). A DNA repetitive element, named IS711, was detected in all studied biovars 1 and its complete nucleotide sequence was determined. We found that the element in alkB gene, bounded by 14 bp imperfect inverted repeats (IRs), is 840 bp long and appears to duplicate a consensus target site, CTAG. Analysing its nucleotide sequence of both forward and reverse strands, more than 10 open reading frames (ORFs) were found. Two potential transposase coding regions were chosen comparing all possible ORFs with the database. Comparing IS711 elements isolated from Brucella species, including both those characterized in our work and the published ones, differences in length and in nucleotide composition were observed among Brucella species, members of the same species and within the same strain. Our results confirm the heterogeneity of IS711 elements in Brucella genus and suggest the possibility to use this element to assess gene and genome diversity and to identify new molecular markers for Brucella species.     

山羊乳中上皮黏蛋白MUC1遗传多态性与产羔数的相关性研究

采用SDS-PAGE法分析9个山羊群体乳中上皮黏蛋白MUC1遗传多态性,并通过构建的线性模型,采用最小二乘法分析乳MUC1位点遗传多态性与产羔数的相关性。结果表明:(1)9个山羊群体中,乳MUC1在SDS-PAGE上均呈现出了丰富的遗传多态性,表现为1条或2条迁移率不同的区带,317个个体共检测到7个不同分子质量的MUC1区带,分别代表A、B、C、D、E、F、G7个等位基因,共有17种基因型。(2)乳MUC1位点对山羊产羔数的影响达到显著水平(P<0.05);基因型为CC、EE和FF的个体产羔数的最小二乘均值显著大于基因型为BB、BD和CF的个体最小二乘均值(P<0.05)。因此,说明山羊乳MUC1遗传多态性有望作为产羔数的有效遗传标记。     

西藏部分山羊群体线粒体DNA D-loop区遗传多样性及系统进化分析

为了探究西藏不同山羊群体的遗传多样性和亲缘关系,提取4个山羊群体DNA,扩增其mtDNA D-loop区,并测序。结果显示:西藏山羊群体mtDNA D-loop区长度在1 200～1 212 bp,各群体山羊D-loop区富含A、T碱基,共发现106个多态位点,分离出21个单倍型。西藏山羊群体单倍型多样性(Hd)和核苷酸多样性(Pi)分别为0.085 7～1.000 0,0.007 04～0.019 14,4个群体山羊碱基突变率高,表明西藏山羊的遗传多样性非常丰富。核苷酸歧义度、NJ系统进化树表明西藏山羊群体间有共同母系血源,部分支系母系起源于镰刀型角野山羊(Capra aegagrus)和捻角山羊(Capra falconeri),同时存在其他的母系起源,支持山羊品种内的多起源说。     

Production performance of sheep and goat breeds at a farm in a semi-arid region of Namibia

Tropical Animal Health and Production - This study retrospectively investigated the effect of breed and season on the lambing/kidding dynamics, growth performance, neonatal viability, and weaning...     

Mx基因抗性位点在11个不同鸡种中的分布及遗传结构分析

通过错配PCR技术检测Mx基因S631N位点的抗性等位基因A和敏感性等位基因G在11个不同鸡种中的分布差异。结果显示,错配PCR-RFLP能准确检测出抗性等位基因A与敏感性等位基因G在不同鸡种内的突变,抗性等位基因A在所有群体内的基因频率平均为0.502,敏感性等位基因G的频率平均为0.498;11个不同鸡种群体Mx基因S631N位点的观察杂合度平均为0.506 7,Shannon信息指数平均为0.562 9。在该位点上,11个鸡种,漳州斗鸡、吐鲁番斗鸡、皖南鸡、文昌鸡、如皋鸡、安卡鸡偏离了Hardy-Weinberg平衡(P<0.05)外,其余5个群体均处Hardy-Weinberg平衡状态(P>0.05);经Ewens-Watterson中立性检验,该位点在各群体内(除如皋鸡群体外)均属于中立性选择。基于该位点等位基因频率构建的UPGMA聚类图将11个不同鸡种分为3大类,聚类结果反映了11个不同鸡种在Mx基因抗性方面存在的差异和优势。     

Founder and present maternal diversity in two endangered Spanish horse breeds assessed via pedigree and mitochondrial DNA information

Pedigree information and 179 mtDNA sequences from two endangered Spanish horse breeds, the Asturcón pony (143) and the Mallorquí horse (36), were analysed to asses: (i) the pedigree and molecular maternal genetic diversity of the two breeds; (ii) the concordance between the dam lines recorded in the corresponding studbooks and the mtDNA haplotypes identified; and (iii) to assess the losses of maternal genetic variability occurred from the foundation of the studbooks to present. Up to 50 Asturcón and 18 Mallorquí founder dam lines were identified in the studbooks analysed. Up to 315 Asturcón mares and 51 Mallorquí mares that foaled in the last 5 years of recording formed a reference population. Only 35 Asturcón and 13 Mallorquí founder dam lines were represented in their reference populations. Sequences from a total of 38 Asturcón and 12 Mallorquí dam lines could be obtained. The 179 sequences obtained gave 15 different haplotypes, 11 and 9 of them being identified, respectively, in the Asturcón pony and in the Mallorquí horse. Five different haplotypes (roughly two-thirds of the sequences) were shared by the two horse breeds. Most dam lines analysed had a single mtDNA haplotype. However, more than one haplotype was detected within eight of the dam lines in Asturcón pony. The found inconsistencies are likely to result from deficiencies in genebank management. The maternal N(e) (mN(e)) computed using the dam line information was higher in the Asturcón pony (20.5) than in the Mallorquí horse (15.9), while these figures were on the opposite direction for the haplotypic line information (6.4 and 9.4, respectively). The ratio of the computed mN(e) values to the actual number of founder dam lines were always higher in the Mallorquí horse probably due to a more balanced distribution of individuals kept for reproduction among studs. Consequences for the conservation programmes of the analysed breeds are discussed.     

Genetic differences among native and modern cattle breeds in Lithuania based on milk protein loci polymorphism

The intrabreed and interbreed genetic diversity of Lithuanian cattle breeds - two native, namely Lithuanian Light Grey and Lithuanian White-Backed and two modern, namely Lithuanian Red and Lithuanian Black and White was investigated by determination of genetic markers: 4 milk protein systems, Alpha(s1)-casein, Kappa-casein, Beta-casein and Beta-lactoglobulin, which are comprised of 12 different milk protein types. According to results, the B type of Alpha(s1)-casein was found as predominant in all four studied breeds. The most common A and B types of Kappa-casein were found at high frequency in all investigated cattle breeds. All investigated Lithuanian dairy cattle breeds had high frequency of Beta-lactoglobulin whey protein B types, with the highest frequency in Lithuanian Red breed, and the lowest in Lithuanian Light Grey. After investigation the diversity of alleles and genotypes of milk proteins in Lithuanian dairy cattle breeds was determined that, Lithuanian Red breed was distinguished private C allele and BC genotype of Beta-lactoglobulin and CC genotype of Alpha(s1)-casein. The interbreed genetic diversity was estimated by a principal component analysis (PCA). The first principal component (PC) explains 63.39% and the second principal component (PC) explains 33.67% of the genetics diversity between the breeds. Principal component analysis, suggests the hypothesis that native Lithuanian White Backed and Lithuanian Light Grey breeds still have traits tracing to old native populations.     

Haplotype diversity in MC1R locus between the Min and white-haired pig breeds

In this article, we investigated the genetic variations in the coding region of porcine melanocortin receptor 1 (MC1R) gene in three pig breeds (Min, Yorkshire and Landrace) with black and white coat colors. Six polymorphic sites were found to be significantly associated with coat color. Two blocks were identified in the linkage disequilibrium map, the haplotypes in the first block are nt67/68indelCC and nt67/68indel--, and the haplotypes in the second block are ACCGA and GTTAG. The median-joining network diagram of MC1R haplotypes showed most Min pigs and other Asia domestic breeds own similar haplotypes to ACCGA, while the haplotypes of Europe pig breeds are similar to GTTAG. The phylogenetic analysis of the MC1R CDS further showed Min pigs are close to Laiwu pigs (Shandong, China), which indicated that the black coat color trait of Min pig might be originated and evolved from the black pig breed in Shandong Peninsula of China.     

Polymorphism of caprine milk alphas1-casein in relation to performance of four Polish goat breeds

Polymorphism of goat milk alphas1-casein was determined and potential relations between genetic variants of this protein fraction and goat performance were evaluated. The investigations were performed on 598 goats assigned to of 4 breed groups (White improved 254 units, Coloured improved--124, White non-improved--146 and Coloured non-improved--74). For each goat, alphas1-casein polymorphism was determined in polyacrylamide gel by the PAGE-SDS method and percentage of milk alphas1-casein and gene frequency established. There was evaluated goat performance at successive lactations. In the goat population investigated, AA, AB, BB, AE, BE and EE alphas1-casein genotypes were identified. In all four breeds, alphas1-casein genotype EE clearly predominated (27.2-39.2%), recognized as "medium" and its share was higher in the groups of non-improved goats. It was conditioned by high frequency of gene E alphas1-casein (0.419-0.622). Generally, EE genotype percentage was higher in the non-improved goat groups. The improved goats, though, obtained higher productivity in each of the lactation studied. Analysis of relationships between alphas1-casein genetic variants and goats performance confirmed a significant influence on milk, protein and fat yields only in the Coloured improved goat group. There was revealed a more general tendency indicating a significant impact of "strong" alphas1-casein genotypes on a concentration of basic milk components, i.e. fat and protein, especially casein. In a group of goats producing milk of the highest casein content (over 2.4%) and protein (over 3.0%), the animals showing "strong" alphas1-casein variants dominated (85 and 70 %).     

Genetic polymorphism of the 17th exon at porcine RYR1 locus: a new variant in a local Portuguese pig breed demonstrated by SSCP analysis

Until 1991, malignant hyperthermia represented a major and important economic loss in modern pork production. It is a recessive autosomal disorder with variable expression that was not known to occur in the local pig breeds from Portugal, Alentejano and Bísaro, prior to outcrossing with commercial breeds. In swine, this disorder is due to a mutation in exon 17 of the ryanodine receptor 1 (RYR1) gene, detectable through the analysis of a restriction fragment length polymorphism. We used this technique to distinguish between resistant (NN), carrier (Nn) and susceptible (nn) genotypes, with the aim of excluding carriers from the breeding programme. We further developed a rapid screening technique on the basis of SSCP (single-strand conformation polymorphism). Fifteen heterozygous (Nn) individuals were found in our sample of 48 individuals from Bísaro breed using both techniques. The absence of homozygous susceptible pigs suggests that the introduction of this allele into Bísaro breed has been recent. A genetically controlled breeding programme on the basis of our findings should help to secure the future of Bísaro pigs of which few individuals are known to exist. To date, only one mutation was found in the 5' end of exon 17 of the porcine RYR1 gene. Here we present the frequencies of this mutation and describe a new mutation detected in the Alentejano breed. PCR-SSCP analysis followed by automatic sequencing allowed the detection of this rare transition (C → T) at nucleotide 1851 of exon 17.     

关中奶山羊CSN1S1基因克隆、生物信息学及组织表达谱分析

【目的】通过分析关中奶山羊αs1-酪蛋白(alpha-s1 casein, CSN1S1)基因组织表达谱及其生物信息学功能,初步探究CSN1S1基因在奶山羊乳成分合成中发挥的作用。【方法】以关中奶山羊为研究对象,利用PCR扩增并克隆CSNIS1-1和CSN1S1-2 2个突变形态,并利用ProtParam、NetPhos、SingalP 4.1 Server、NPS和Phyre2等多种生物信息软件和在线工具对CSN1S1基因及其突变形态的蛋白质结构、理化性质、磷酸化位点等进行分析,通过实时荧光定量PCR检测CSNIS1-1和CSN1S1-2在关中奶山羊肝脏、脾脏、乳腺、肾脏、子宫、输卵管6个组织中的相对表达量。【结果】关中奶山羊乳腺上皮细胞中存在CSN1S1-1和CSN1S1-2 2种突变形态。对测序结果比对显示,CSN1S1-1存在3个碱基的突变,CSN1S1-2不仅存在3个碱基的突变,还存在6个碱基的缺失。CSN1S1-1与CSN1S1蛋白相似性为99.07%,CSN1S1-2与CSN1S1蛋白相似性为97.20%。蛋白理化性质分析显示,CSN1S1-1中碱基的突变导致第31位亮氨...