基于SNP芯片分析青峪猪保种群体的遗传结构

为了更好地了解青峪猪在世代更替过程中遗传结构的变化,更好的保护和利用青峪猪遗传资源,本研究利用50K SNP芯片,对青峪猪保种群内141头（26头公猪,115头母猪）健康成年个体进行SNP测定,通过多种分析软件对青峪猪保种群体和各个世代进行系谱校正,进而实施群体遗传多样性、遗传距离以及遗传结构变化等分析。结果显示,该封闭保种群由3个重叠世代构成,群体有效含量为12头,且整个群体可以分为6个含有公猪的家系和1个不含公猪的家系。其中,第3世代的有效群体含量最少,仅为3头,多态性标记比例随着世代的增加不断下降;141头青峪猪的平均遗传距离为（0.260 4±0.025 2）,26头种公猪的遗传距离为（0.263 3±0.023 7）。随着繁殖世代的增加,各世代群体的遗传距离有轻微的上升趋势,部分种猪之间的亲缘关系和遗传距离较近;在141头青峪猪群体中共检测到1 481个基因组上长纯合片段（runs of hemozygosity,ROH）,78.01%的长度在200 Mb以内,基于ROH值计算的近交系数表明整个群体的平均近交系数为0.055,且各世代的近交系数在不断上升,到第3世代时已经达到了0.075。综上所述,通过对青峪猪分子水平的群体遗传结构研究表明,该保种群体在闭锁的继代繁育过程中存在群体遗传多样性损失,需要加强选配或导入外血以确保青峪猪遗传资源的长期保存。     

利用高密度SNP芯片分析杭猪的群体遗传结构

旨在更好地了解杭猪保种群体的遗传多样性、亲缘关系和家系结构，有效保护和利用杭猪遗传资源。本研究使用50K SNP芯片对30头杭猪（4头公猪，26头母猪）保种个体进行了单核苷酸多态性（single nucleotide polymorphism，SNP）测定，通过Plink软件对获得的基因型数据进行质控，用于最小等位基因频率、观察杂合度、期望杂合度和多态信息含量的计算，分析杭猪保种群的遗传多样性；使用Plink计算连续性纯合片段（runs of homozygosity，ROH）、构建状态同源（identity by state，IBS）距离矩阵，并计算得到基于连续性纯合片段的近交系数；采用Gmatrix软件构建G矩阵，分析杭猪保种群的亲缘关系；使用Mega X软件构建公猪进化树，分析保种群体的家系结构。结果表明，30头杭猪共得到57 466个SNPs标记，平均检出率为0.988 3±0.000 4，通过质检SNPs数为34 156；平均最小等位基因频率为0.228±0.137，平均多态信息含量为0.255±0.098；平均观察杂合度为0.359±0.181，平均期望杂合度为0.314±0.140。杭猪保种群体平均IBS遗传距离为0.241 7±0.033 6，公猪平均IBS遗传距离为0.178 3±0.025 5；G矩阵分析结果与IBS距离矩阵一致，两个结果均表明杭猪保种群部分个体之间亲缘关系较近。30头杭猪个体共检测到828个ROHs，83.33%的ROH长度在10 Mb以内，平均长度为（6.96±9.62） Mb，个体ROH平均总长度为（191.95±201.56） Mb。基于ROH的平均近交系数为0.078±0.082，其中公猪平均近交系数为0.219±0.082，说明杭猪保种群整体的近交程度不严重，但公猪存在近交。进化树结果表明，杭猪保种群体目前只有2个家系，其中1个家系包含4头公猪，另一个家系不含公猪。综上所述，杭猪保种场的保种群公猪的血缘数量少，母猪近交程度低，公猪存在近交，需要引入新血统或创建新血统来维持家系结构的平衡以利于杭猪遗传资源的长期保存，防止杭猪遗传多样性的丢失。     

SNP芯片评估柯尔克孜羊群体遗传多样性和遗传结构

旨在了解柯尔克孜羊群体的遗传多样性和遗传结构,有效地保护和利用其遗传资源。本研究利用绵羊SNP 50K v3芯片检测61只柯尔克孜种羊(31只公羊、30只母羊)个体的单核苷酸多态性(single nucleotide polymorphism, SNP);Plink(V1.90)软件对数据进行质控,计算群体有效含量、多态标记的比例、观测杂合度、期望杂合度、多态信息含量、有效等位基因数、最小等位基因频率,分析群体的遗传多样性;Plink计算连续性纯合片段(runs of homozygosity, ROH)和近交系数F_ROH;构建状态同源距离矩阵(identical by state, IBS),并采用Gmatrix软件构建G矩阵,解析柯尔克孜羊群的遗传距离和亲缘关系;使用Mega X软件构建种公羊进化树,分析群体家系结构。结果显示,61只柯尔克孜羊共得到64 734个SNPs标记,通过质检的SNPs为56 763个;平均多态信息含量为0.273±0.112,平均观察杂合度和平均期望杂合度分别为0.368±0.140和0.368±0.130,平均最小等位基因频率为0...     

Effect of inbreeding on the incidence of retained placenta in Friesian horses

This study was motivated by the hypothesis that the incidence of retained placenta (RP) in Friesian horses is associated with inbreeding. The objectives were to 1) calculate the inbreeding rate in the total registered Friesian horse population; 2) study the association of the inbreeding coefficient of the foal and the mare with the incidence of RP; and 3) study the heritability of RP in Friesian mares after normal foalings. Data from the total registered Friesian horse population from 1879 to 2000 (52,392 individuals) were collected from the registration files of the Friesian Horse Studbook. In 1999 and 2000, 495 parturitions in 436 mares were studied. From 1979 to 2000, the inbreeding rate of the total population was 1.9% per generation. The regression coefficients for the regression of the incidence of RP on inbreeding coefficients of the foal and the mare were 0.12 +/- 0.052 and -0.016 +/- 0.019, respectively. Mean heritability estimates of RP as a foal trait and as a mare trait were 0.046 +/- 0.088 and 0.105 +/- 0.123, respectively. It was concluded that, in order to avoid a further increase in the incidence of RP in Friesian mares, a decrease in the inbreeding rate by increasing the effective breeding population is required. Furthermore, the findings indicate that the high incidence of RP in Friesian horses is at least partly a result of inbreeding.     

基于基因组和系谱信息的不同选配方案效果模拟研究

基因组选配（genomic mating,GM）是利用基因组信息进行优化的选种选配,可以有效控制群体近交水平的同时实现最大化的遗传进展。但基因组选配是对群体中所有个体进行选配,这与实际的育种工作有点相悖。本研究模拟了遗传力为0.5的9 000头个体的基础群数据,每个世代根据GEBV选择30头公畜、900头母畜作为种用个体,而后使用基因组选配、同质选配、异质选配、随机交配4种不同的选配方案。其中基因组选配中分别选取遗传进展最大的解、家系间方差最大的解、近交最小的解所对应的交配方案进行选育。每种方案选育5个世代,比较其后代群体的平均GEBV、每世代的遗传进展、近交系数、遗传方差,并重复5次取平均值。结果表明,3种基因组选配方案的ΔG均显著高于随机交配和异质选配（P<0.01）,而且,选取遗传进展最大的基因组选配方案的ΔG比同质选配还高出4.3%。3种基因组选配的方案的ΔF比同质选配低22.2%~94.1%,而且选取近交最小的基因组选配方案ΔF比异质选配低11.8%。同质选配的遗传方差迅速降低,在第5世代显著低于除基因组选配中选择遗传进展最大的方案以外的所有方案（P<0.05）,3种基因组选配方案的遗传方差比同质选配高10.8%~32.2%。这表明基因组选配不仅可以获得比同质选配更高的遗传进展,同时有效的降低了近交水平,并且减缓了遗传方差降低速度,保证了一定的遗传变异。基因组选配作为一种有效的可持续育种方法,在畜禽育种中开展十分有必要。     

Indicators of genetic erosion in an endangered population: the Alentejana cattle breed in Portugal

A study was conducted to characterize genetic diversity in the Alentejana breed of cattle based on its demographic trends and to investigate the major factors affecting genetic erosion in this breed. Herdbook information collected between 1940 and 2004, including pedigree records on 100,562 animals in 155 herds, was used to estimate demographic parameters. The mean generation intervals were 6.0 +/- 2.4 yr and 6.8 +/- 3.2 yr for sires and dams of calves, respectively. Average inbreeding increased steadily over the period analyzed, with an annual rate of inbreeding of 0.33 +/- 0.004% (P < 0.01) and an effective population size of 23.3. In the reference population (28,531 calves born between 2000 and 2003) the average inbreeding was 8.35 +/- 9.02% and nearly 80% of the calves were inbred, whereas the average relationship among all animals was 0.026 +/- 0.040. Nevertheless, the mean relationship was 0.328 +/- 0.264 and 0.022 +/- 0.026 for animals born in the same and in different herds, respectively. The computed genetic contributions to the reference population resulted in estimates for the effective number of founders, ancestors, founding herds, and herds supplying sires of 121.6, 55.0, 17.1, and 26.9, respectively, the 2 most influential herds and ancestors contributing 24.2 and 15.1%, respectively, of the current genetic pool. Of the 671 founding sires, only 24 Y-chromosomes are currently represented, but 1 sire alone contributes nearly 60% of this representation, such that the effective number of Y-chromosomes is only 2.73. The observed inbreeding per herd was, on average, 0.053 +/- 0.071 lower than expected from the relationship among the generation of parents of calves in the reference population, indicating that producers have followed breeding strategies that have kept inbreeding at lower levels than anticipated with random selection and mating. When compared with other cattle breeds, Alentejana has some of the highest levels of mean inbreeding and annual rate of inbreeding, and an effective population size that is nearly half of the minimum recommended for maintenance of genetic variability. These critical indicators demonstrate the need to adopt strategies aimed at minimizing inbreeding to avoid further losses of genetic diversity.     

Population structure and genetic variability in the Murrah dairy breed of water buffalo in Brazil accessed via pedigree analysis

The objective of this study was to use pedigree analysis to evaluate the population structure and genetic variability in the Murrah dairy breed of water buffalo (Bubalus bubalis) in Brazil. Pedigree analysis was performed on 5,061 animals born between 1972 and 2002. The effective number of founders (fe) was 60, representing 6.32?% of the potential number of founders. The effective number of ancestors (fa) was 36 and the genetic contribution of the 17 most influent ancestors explained 50?% of the genetic variability in the population. The ratio fe/fa (effective number of founders/effective number of ancestors), which expresses the effect of population bottlenecks, was 1.66. Completeness level for the whole pedigree was 76.8, 49.2, 27.7, and 12.8?% for, respectively, the first, second, third, and fourth known parental generations. The average inbreeding values for the whole analyzed pedigree and for inbreed animals were, respectively, 1.28 and 7.64?%. The average relatedness coefficient between individuals of the population was estimated to be 2.05?%??the highest individual coefficient was 10.31?%. The actual inbreeding and average relatedness coefficient are probably higher than estimated due to low levels of pedigree completeness. Moreover, the inbreeding coefficient increased with the addition of each generation to the pedigree, indicating that incomplete pedigrees tend to underestimate the level of inbreeding. Introduction of new sires with the lowest possible average relatedness coefficient and the use of appropriate mating strategies are recommended to keep inbreeding at acceptable levels and increase the genetic variability in this economically important species, which has relatively low numbers compared to other commercial cattle breeds. The inclusion of additional parameters, such as effective number of founders, effective number of ancestors, and fe/fa ratio, provides better resolution as compared to the inclusion of inbreeding coefficient and may help breeders and farmers adopt better precautionary measures against inbreeding depression and other deleterious genetic effects.     

Analyses of genetic diversity in five Canadian dairy breeds using pedigree data

The issue of loss of animal genetic diversity, worldwide in general and in Canada in particular, has become noteworthy. The objective of this study was to analyze the trend in within‐breed genetic diversity and identify the major causes of loss of genetic diversity in five Canadian dairy breeds. Pedigrees were analyzed using the software EVA (evolutionary algorithm) and CFC (contribution, inbreeding, coancestry), and a FORTRAN package for pedigree analysis suited for large populations (PEDIG). The average rate of inbreeding in the last generation analyzed (2003 to 2007) was 0.93, 1.07, 1.26, 1.09 and 0.80% for Ayrshire, Brown Swiss, Canadienne, Guernsey and Milking Shorthorn, respectively, and the corresponding estimated effective population sizes were 54, 47, 40, 46 and 66, respectively. Based on coancestry coefficients, the estimated effective population sizes in the last generation were 62, 76, 43, 61 and 76, respectively. The estimated percentage of genetic diversity lost within each breed over the last four decades was 6, 7, 11, 8 and 5%, respectively. The relative proportion of genetic diversity lost due to random genetic drift in the five breeds ranged between 59.3% and 89.7%. The results indicate that each breed has lost genetic diversity over time and that the loss is gaining momentum due to increasing rates of inbreeding and reduced effective population sizes. Therefore, strategies to decrease rate of inbreeding and increase the effective population size are advised.     

Population structure of Reyna Creole cattle in Nicaragua

Reyna Creole cattle originated from Bos taurus cattle brought to Latin America during the Spanish colonization in the fifteenth century and are the only remaining local breed in Nicaragua. However, the current genetic status of this breed is unknown. Therefore, the population structure of three recorded Reyna Creole herds in Nicaragua was studied to estimate their level of inbreeding, effective population size, and generation intervals. Data from 2,609 animals born between 1958 and 2007 were analyzed. A pedigree completeness index higher than 0.8 was required to obtain reliable estimates of the level of inbreeding, and this criterion was met for 367 animals (14%) in two herds. The average level of inbreeding was 13.0%, with values ranging from 0% to 43.8% for individual animals. One of the herds had an average inbreeding level of 21.6%, primarily due to long periods in which the same bulls were used for mating, leading to excessive frequencies of matings between closely related animals. The effective population size differed between years and ranged from 28 to 46 animals, showing that the Reyna Creole cattle breed is endangered, close to critical status. The average generation interval was 6.9 years with values as high as 19.1 years for some sires that were used for artificial insemination over a long period of time. Due to the high level of inbreeding and small population size, urgent actions are required for the development of a breeding program to protect the breed and support its sustainable utilization.     

Effective population size and inbreeding depression on litter size in rabbits. A case study

The purpose of this study is to use demographic and litter size data on four Spanish maternal lines of rabbits (A, V, H and LP), as a case study, in order to: (i) estimate the effective population size of the lines, as a measure of the rate of increase of inbreeding, and (ii) study whether the inbreeding effect on litter size traits depends on the pattern of its accumulation over time. The lines are being selected for litter size at weaning and are kept closed at the same selection nucleus under the same selection and management programme. The study considered 47 794 l and a pedigree of 14 622 animals. Some practices in mating and selection management allow an increase of the inbreeding coefficient lower than 0.01 per generation in these lines of around 25 males and 125 females. Their effective population size (Ne) was around 57.3, showing that the effect of selection, increasing the inbreeding, was counterbalanced by the management practices, intended to reduce the rate of inbreeding increase. The inbreeding of each individual was broken down into three components: old, intermediate and new inbreeding. The coefficients of regression of the old, intermediate and new inbreeding on total born (TB), number born alive (NBA) and number weaned (NW) per litter showed a decreasing trend from positive to negative values. Regression coefficients significantly different from zero were those for the old inbreeding on TB (6.79 ± 2.37) and NBA (5.92 ± 2.37). The contrast between the coefficients of regression between the old and new inbreeding were significant for the three litter size traits: 7.57 ± 1.72 for TB; 6.66 ± 1.73 for NBA and 5.13 ± 1.67 for NW. These results have been interpreted as the combined action of purging unfavourable genes and artificial selection favoured by the inbreeding throughout the generations of selection.     

Changes in inbreeding of U.S. Herefords during the twentieth century

Genetic diversity in the U.S. Hereford population was characterized by examining the level and rate of inbreeding and effective population size. Pedigree records for 20,624,418 animals were obtained from the American Hereford Association, of which 96.1% had both parents identified. Inbreeding coefficients were computed and mean inbreeding (Fx) calculated by year from 1900 to 2001. Inbreeding increased rapidly between 1900 and 1945. From 1946, inbreeding increased linearly to a maximum of 11.5% in 1966. Throughout the 1970s and 1980s, mean inbreeding decreased to mid-century levels. Several alternatives were investigated to explain this decline. The average relationship between prominent sires fell from 20 to 12% during the time that the level of inbreeding decreased, which reflects an increase in the popularity of certain less fashionable sire lines that would have temporarily decreased inbreeding. Pedigrees were constructed for animals born after 1990. This subsample of animals with no missing ancestors in at least 12 generations did not exhibit a decrease in inbreeding. Missing ancestral information therefore contributed to the apparent decline. One cause of missing ancestry results from outcrossing to imported animals. The effect of missing ancestry was investigated by simulating the missing ancestors. In 2001, Fx was 9.8%, and approximately 95% of individuals were inbred. The maximal inbreeding coefficient was 76%. The annual change in mean inbreeding (DeltaFx) was estimated for Herefords born during five time periods from 1946 to 2001, where inbreeding was changing at different linear rates. The DeltaFx for the most recent generation (1990 to 2001) was 0.12%/yr. Assuming a generation interval of 4.88 yr, the estimated effective population size was 85. This study provides a benchmark of current genetic diversity in the Hereford population. Results indicate that inbreeding is accumulating linearly and below critical levels. Increases in the adoption of reproductive technologies could decrease genetic diversity, and in the future, we may need to consider strategies to minimize inbreeding.     

Population genetic structure of Santa Inês sheep in Brazil

This study aimed to describe the population genetic structure and evaluate the state of conservation of the genetic variability of Santa Inês sheep in Brazil. We used pedigree data of the Santa Inês breed available in electronic processing of the Brazilian Association of Sheep Breeders. A file with 20,206 records, which enabled the calculation of the genetic conservation index (GCI), individual inbreeding coefficient (F), change in inbreeding (ΔF), effective population size (Ne), effective number of founders (?_e), effective number of ancestors (?_ɑ), generation interval (L), average relatedness coefficient of each individual (AR), and Wright’s F-statistics (F _IT, F _IS, and F _ST). For pedigree analysis and calculation of population parameters, the program ENDOG was used. The average inbreeding coefficient (\( \overline{F} \)) was 0.97% and the mean average relatedness (\( \overline{\mathrm{AR}} \)) 0.49%. The effective numbers of founders and ancestors were, respectively, 199 and 161. The average values of F and AR increased significantly over the years. The effective population size fluctuated over the years concurrently to oscillations in inbreeding rates, wherein N _e reached just 68 in the year 2012. The mean average generation interval was 5.3 years. The Santa Inês breed in Brazil is under genetic drift process, with loss of genetic variation. It requires the implementation of a genetic management plan in the herd, for conservation and improvement of the breed.     

Analysis of pedigree and conformation data to explain genetic variability of the horse breed Franches-Montagnes

Franches‐Montagnes is the only native horse breed in Switzerland, therefore special efforts should be made for ensuring its survival. The objectives of this study were to characterize the structure of this population as well as genetic variability with pedigree data, conformation traits and molecular markers. Studies were focused to clarify if this population is composed of a heavy‐ and a light‐type subpopulation. Extended pedigree records of 3‐year‐old stallions (n = 68) and mares (n = 108) were available. Evaluations of body conformation traits as well as pedigree data and molecular markers did not support the two‐subpopulation hypothesis. The generation interval ranged from 7.8 to 9.3 years. The complete generation equivalent was high (>12). The number of effective ancestors varied between 18.9 and 20.1, whereof 50% of the genetic variability was attributed to seven of them. Genetic contribution of Warmblood horses ranged from 36% to 42% and that of Coldblood horses from 4% to 6%. The average inbreeding coefficient reached 6%. Inbreeding effective population size was 114.5 when the average increase of the inbreeding coefficient per year since 1910 was taken. Our results suggest that bottleneck situations occurred because of selection of a small number of sire lines. Promotion of planned matings between parents that are less related is recommended in order to avoid a reduction of the genetic diversity.     

Genetic description of a divergent selection experiment in Angora rabbits with overlapping generations

The chief aims of this paper were the following: (i) to describe the demography and genetic structure in two divergent selected lines for total fleece weight (TFW) of French Angora rabbits with overlapping generations; (ii) to describe the effects of inbreeding during an experiment of divergent selection. A study of longevity with the survival kit showed that there was no significant difference in the risk of death or culling between the low line (LL) and high line (HL). A significant effect of inbreeding (p < 0.05) was observed with a 30% higher risk factor in the highest class of inbreeding coefficient compared with the other classes. The means of generation interval were 562 and 601 days in LL and HL, respectively. The numbers of generations for LL and HL were 3.90 and 3.64, respectively. Generation intervals decreased significantly from 1995 to 2000 (p < 0.05). The number of daughters in HL was very variable. The number of animals per generation was higher in HL than in LL. Each buck left nearly three daughters to the next generation (2.52 in LL, 3.24 in HL). In both lines, the effective number of ancestor genomes still present in the genetic pool of the generation was around eight from the reference population of 1995 to that of 2001. Inbreeding in HL was always higher than in LL. The effect of inbreeding was also significant (p < 0.05) on TFW and live weight. The animals with the lowest inbreeding category produced a higher TFW (p < 0.05) than the others. The observed selection differentials were lower than that expected owing to the breeding animal management rules in order to control inbreeding increase.     

Rates of inbreeding and genetic diversity in Iranian Holstein Cattle

The accumulation of inbreeding and the loss of genetic diversity is a potential problem in Holstein dairy cattle. The goal of this study was to estimate inbreeding levels and other measures of genetic diversity, using pedigree information from Iranian Holstein cattle. Edited pedigree included 1 048 572 animals. The average number of discrete generation equivalents and pedigree completeness index reached 13.4 and 90%, respectively. The rate of inbreeding was 0.3% per year. Effective number of founders, founder genomes, non‐founders and ancestors of animals born between 2003 and 2011 were 503, 15.6, 16.1 and 25.7, respectively. It was proven that the unequal founder contributions as well as bottlenecks and genetic drift were important reasons for the loss of genetic diversity in the population. The top 10 ancestors with the highest marginal genetic contributions to animals born between 2003 and 2011 and with the highest contributions to inbreeding were 48.20% and 63.94%, respectively. Analyses revealed that the most important cause of genetic diversity loss was genetic drift accumulated over non‐founder generations, which occurred due to small effective population size. Therefore, it seems that managing selection and mating decisions are controlling future co‐ancestry and inbreeding, which would lead to better handling of the effective population size.     

Pedigree analysis and inbreeding depression on growth traits in Brazilian Marchigiana and Bonsmara breeds

The study of population structure by pedigree analysis is useful to identify important circumstances that affect the genetic history of populations. The intensive use of a small number of superior individuals may reduce the genetic diversity of populations. This situation is very common for the beef cattle breeds. Therefore, the objectives of the present study were to analyze the pedigree and possible inbreeding depression on traits of economic interest in the Marchigiana and Bonsmara breeds and to test the inclusion of the individual inbreeding coefficient (F(i)) or individual increases in inbreeding coefficient (ΔF(i)) in the genetic evaluation model for the quantification of inbreeding depression. The complete pedigree file of the Marchigiana breed included 29,411 animals born between 1950 and 2003. For the Bonsmara breed, the pedigree file included 18,695 animals born between 1988 and 2006. Only animals with at least 2 equivalent generations of known pedigree were kept in the analyses of inbreeding effect on birth weight, weaning weight measured at about 205 d, and BW at 14 mo in the Marchigiana breed, and on birth weight, weaning weight, and scrotal circumference measured at 12 mo in the Bonsmara breed. The degree of pedigree knowledge was greater for Marchigiana than for Bonsmara animals. The average generation interval was 7.02 and 3.19 for the Marchigiana and Bonsmara breed, respectively. The average inbreeding coefficient was 1.33% for Marchigiana and 0.26% for Bonsmara. The number of ancestors explaining 50% of the gene pool and effective population size computed via individual increase in coancestry were 13 and 97.79 for Marchigiana and 41 and 54.57 for Bonsmara, respectively. These estimates indicate reduction in genetic variability in both breeds. Inbreeding depression was observed for most of the growth traits. The model including ΔF(i) can be considered more adequate to quantify inbreeding depression. The inclusion of F(i) or ΔF(i) in the genetic evaluation model may not result in better fit to the data. A genetic evaluation with simultaneous estimation of inbreeding depression can be performed in Marchigiana and Bonsmara breeds, providing additional information to producers and breeders.     

Pedigree analysis of the Hungarian Thoroughbred population

The aim of the study was to analyse the pedigree information of Thoroughbred horses which were participating in gallop races between 1998 and 2010 in Hungary. Among the 3043 individuals of the reference population there were imported animals from foreign countries (e.g. Germany, England or Ireland) and horses that were born in Hungary. The number of complete generations was 15.64 (varied between 0 for the founders and 25.20), the mean number of full generations was 6.69, and the mean maximum generations were 28.96. The number of founders was 1062, and the effective number of founders was 42. Two hundred and thirty-two founders were born before 1793 (when the stud book of the Thoroughbred breed was closed), therefore these founders are considered as true founders of the breed. These 232 founders were responsible for 88.58% of the gene pool in the reference genome. The significant difference between the number of founders and effective number of founders indicate that the genetic diversity decreased greatly from the founders to the reference population. The number of ancestors was 908 and only 6 of them were responsible for 50% of the genetic diversity in the examined population. The effective number of ancestors was 15.32. From the ratio of the effective number of founders and effective number of ancestors we concluded to a bottleneck effect that characterizes the pedigree under study. Generation interval was more than a year longer for stallions (12.17) than it was for mares (10.64). More than 94% of the individuals in the pedigree were inbred, and the average inbreeding of the population was 9.58%. Considering the changes of the inbreeding status of the examined population 4 large time periods were appointed. The first lasted until 1780, the second period was from 1780 until 1952, the third period was between 1946 and 1998 and the last one was from 1998 until 2008. Rate of inbreeding in the last generation was 0.3%, which forecasts further increase in inbreeding. The effective population size was above 100 in the last 30 generations, proving the genetic diversity did not decrease by a level that would make long-term selection impossible.     

The contribution of dominance and inbreeding depression in estimating variance components for litter size in Pannon White rabbits

In a synthetic closed population of Pannon White rabbits, additive (V_A), dominance (V_D) and permanent environmental (V_Pe) variance components as well as doe (b_Fd) and litter (b_Fl) inbreeding depression were estimated for the number of kits born alive (NBA), number of kits born dead (NBD) and total number of kits born (TNB). The data set consisted of 18,398 kindling records of 3883 does collected from 1992 to 2009. Six models were used to estimate dominance and inbreeding effects. The most complete model estimated V_A and V_D to contribute 5.5 ± 1.1% and 4.8 ± 2.4%, respectively, to total phenotypic variance (V_P) for NBA; the corresponding values for NBD were 1.9 ± 0.6% and 5.3 ± 2.4%, for TNB, 6.2 ± 1.0% and 8.1 ± 3.2% respectively. These results indicate the presence of considerable V_D. Including dominance in the model generally reduced V_A and V_Pe estimates, and had only a very small effect on inbreeding depression estimates. Including inbreeding covariates did not affect estimates of any variance component. A 10% increase in doe inbreeding significantly increased NBD (b_Fd = 0.18 ± 0.07), while a 10% increase in litter inbreeding significantly reduced NBA (b_Fl = ?0.41 ± 0.11) and TNB (b_Fl = ?0.34 ± 0.10). These findings argue for including dominance effects in models of litter size traits in populations that exhibit significant dominance relationships.     

Effect of sire mating patterns on future genetic merit and inbreeding in a closed beef cattle population

Summary Alternative breeding strategies were simulated based on the population structure of the Tajima strain of Japanese Black cattle. An analysis of the population structure revealed that some sires up to 20 years of age have been used in Tajima. In addition, 95% of newborn calves were the progeny of only 20 sires, and their mating frequencies were significantly skewed. The current average inbreeding coefficient and founder genome equivalents of the strain were estimated to be 0.199 and 2.25, respectively. Average inbreeding coefficient is expected to reach 0.394 within 27 years. Thus, different breeding strategies were assessed for their effect on the level of inbreeding and average genetic merit. We compared strategies that (1) halve the sire service period, (2) double the number of mating sires and (3) lower the skewed sire mating frequency and optimize the frequency for weighted genetic merit and diversity. Reducing the service period yielded a 7.0–12.0% reduction in the rate of inbreeding while maintaining almost the same genetic gain. Increasing the number of sires resulted in a 19.3–21.3% reduction in inbreeding with a corresponding 1.6–8.4% reduction in gain. The rates of inbreeding from the optimized strategies decreased as the weight on genetic diversity increased. However, a strategy that emphasized only genetic gain yielded lower gain than other strategies because the strategy allowed only one sire to mate, resulting in reduced genetic variance and low accuracy of genetic evaluation. In contrast, a strategy with no emphasis on genetic gain when determining mating frequency resulted in reductions of 16.0% and 63.2% in genetic gain and inbreeding, respectively. The strategies examined here are easily applicable and can be expected to reduce immediate loss of genetic diversity.     

基于SNP芯片监测通城猪的保种效果

旨在基于SNP芯片信息分析通城猪保种群的群体结构和遗传多样性,对保种效果进行监测。本研究利用“中芯一号”50K SNP芯片对68头通城猪的全基因组SNP进行扫描,通过以下两方面评估保种效果：1）群体结构。通过群体分层、遗传距离、亲缘关系以及公猪基因组家系等分析,研究通城猪个体间的群体结构;2）遗传多样性。估算等位基因频率、有效等位基因数、多态信息含量、多态性标记比例、杂合度、核苷酸多样性等多态性和杂合性相关参数估计遗传多样性,分析有效群体含量和连续性纯合片段（runs of homozygosity,ROH）,综合评估保种效果。结果显示：1）保种群无明显分层,遗传距离为0.27,亲缘系数为0.17;2）基因组等位基因频率为0.77,有效等位基因数为1.52,多态信息含量均值为0.31,多态性标记比例为88.28%,观测杂合度为0.32,期望杂合度为0.31;20世代前通城猪有效群体含量为105头,当前世代有效群体含量为94头;ROH共计有184个,平均ROH长度为23.71 Mb,其中28.80%的长度在15~20 Mb之间;基因组近交系数为0.04%,具较低水平的近交程度。通城猪保种群是一个没有分层的纯种群体,具有丰富的遗传多样性,得到了有效保护。