不同类型肉鸡线粒体单倍型与遗传起源研究

旨在探讨鸡线粒体D-loop区单倍型特性以及与生长速度的相关性,并分析其遗传起源。选取不同类型肉鸡品种（配套系）6个,测定其生产性能,并对6个群体共计314个个体线粒体D-loop区全长进行测序,分析其单倍型特性;同时与不同红色原鸡亚种进行聚类,分析其母系起源。结果显示,6个群体D-loop区全序列共检测到37个突变位点,构成40种单倍型,分为A、B、C和E 4个单倍型群,其中AA肉鸡、罗斯308、禽雁麻鸡和裕禾1号肉鸡主要为E单倍型,占比分别为85.92%、50.00%、100.00%和70.21%;园丰麻鸡2号和港丰瑶黑麻鸡E单倍型占比相对较低,分别为15.00%和22.39%,园丰麻鸡2号B单倍型含量最高,占比66.67%,港丰瑶黑麻鸡C单倍型含量最高,占比40.30%。相关性分析显示,初生重与E单倍型比例之间呈极显著正相关（P<0.01）,与A、B和C单倍型比例之间均呈负相关;E单倍型比例与公母平均体重约1.8 kg时日龄之间呈显著负相关（P<0.05）,而与公母平均体重约1.8 kg时饲料转化比之间呈极显著负相关（P<0.01）。聚类分析显示,A、B单倍型所有个体均与原鸡滇南亚种聚为一枝;E单倍型所有个体均与原鸡印度亚种聚为一枝;C单倍型所有个体与原鸡印度亚种、滇南亚种、指名亚种以及印尼亚种交叉聚为一类。结果提示,线粒体单倍型与肉鸡生长速度之间相关显著,E单倍型与肉鸡生长速度具有较强的正相关;我国家鸡群体母系起源丰富,但主要起源于原鸡滇南亚种。     

Interpopulation and intrapopulation maternal lineage genetics of the Lanyu pig (Sus scrofa) by analysis of mitochondrial cytochrome b and control region sequences

The Lanyu pig is an indigenous breed from the Lanyu Islet, which is southeast of Taiwan. Two herds of Lanyu pigs were introduced from the Lanyu Islet into Taiwan in 1975 and 1980. The current population of conserved Lanyu pigs consists of only 44 animals with unknown genetic lineage. The Lanyu pig possesses a distinct maternal genetic lineage remote from Asian and European pigs. The present study aimed to understand the phylogenetic relationship among conserved Lanyu, Asian, and European type pigs based on the cytochrome b coding gene, to ascertain the maternal lineage and genetic diversity within the conserved Lanyu pigs, and to address whether genetic introgression from exotic or Formosan wild pigs had occurred in the conserved Lanyu pigs. Entire mitochondrial genomes of both types of Lanyu pig comprised 2 ribosomal RNA, 22 transfer RNA, and 13 protein-coding genes. Only 2 haplotypes of the mitochondrial DNA (mtDNA) control region and cytochrome b were identified in the conserved Lanyu pig herds. When maximum likelihood trees were constructed, the Type I Lanyu mitochondrial genes formed a unique clade with a large pairwise distance of both cytochrome b and the control region from Asian and European type breeds, Formosan wild pigs, and exotic breeds. Significant loss of genetic diversity of mtDNA within the conserved Lanyu pigs was demonstrated by low haplotype and nucleotide diversities, supported by Fu and Li's D* neutrality test (1.44055; P < 0.05). The mtDNA control region sequences of extant pigs in the Lanyu Islet, however, showed high haplotype and nucleotide diversity, and clustered with exotic pigs. These results indicate no maternal lineage mtD-NA gene introgression from Formosan wild pigs and introduced exotic pigs to conserved Type I Lanyu pigs, and a severe loss of heterozygosity of mtDNA in conserved Lanyu pigs. The remaining extant pigs on the Lanyu Islet have been introgressed with exotic breeds. Strategies for future conservation of native Lanyu pigs are now even more urgent and important.     

The phylogenetic status of typical Chinese native pigs: analyzed by Asian and European pig mitochondrial genome sequences

China is one of the most diverse countries, which have developed 88 indigenous pig breeds. Several studies showed that pigs were independently domesticated in multiple regions of the world. The purpose of this study was to investigate the origin and evolution of Chinese pigs using complete mitochondrial genomic sequences (mtDNA) from Asian and European domestic pigs and wild boars. Thirty primer pairs were designed to determine the mtDNA sequences of Xiang pig, Large White, Lantang, Jinhua and Pietrain. The phylogenetic status of Chinese native pigs was investigated by comparing the mtDNA sequences of complete coding regions and D-loop regions respectively amongst Asian breeds, European breeds and wild boars. The analyzed results by two cluster methods contributed to the same conclusion that all pigs were classified into two major groups, European clade and Asian clade. It revealed that Chinese pigs were only recently diverged from each other and distinctly different from European pigs. Berkshire was clustered with Asian pigs and Chinese pigs were involved in the development of Berkshire breeding. The Malaysian wild boar had distant genetic relationship with European and Asian pigs. Jinhua and Lanyu pigs had more nucleotide diversity with Chinese pigs although they all belonged to the Asian major clade. Chinese domestic pigs were clustered with wild boars in Yangtze River region and South China.     

中国地方猪种线粒体基因组遗传多样性及其系统发育分析

为从分子水平上探究中国地方猪种遗传多样性和分类地位,本试验采用生物信息学方法比较了6个类型共22个中国地方猪种的线粒体基因组全序列,分析了其多态性,并构建了6个类型猪种线粒体D-loop区单倍型的网络中介图以及基于线粒体D-loop序列、Cytb基因、完整编码区序列的系统进化树。结果表明,6个类型22个猪种中共检测到了144个多态位点,22种单倍型,说明地方猪种具有丰富的遗传多样性;地方猪线粒体基因组序列中核苷酸变异以转换为主,且Ti/Tv大于转换/颠换比临界值（2.0）,变异位点均符合中性突变。6个类型猪种间遗传距离均较小,且有共享单倍型。系统进化树结果表明,6种类型地方猪种主要聚为两个支系。表明线粒体D-loop序列及Cytb基因均可作为研究种内系统发育、起源进化的分子标记。     

Genetic Diversity and Phylogenetic Relationships of the Complete Mitochondrial Genome in Chinese Indigenous Pig Breeds

In order to explore the genetic diversity and the classification status of the Chinese domestic pigs at the molecular level, the complete mitochondrial DNA (mtDNA) genomic sequences of 22 Chinese indigenous pig breeds from 6 types were downloaded from GenBank for the analysis using the bioinformatics method. The polymorphism of nucleic acid sequences was analyzed,the molecular phylogenetic tree based on D-loop sequences, Cytb gene, complete coding region mtDNA sequences and the Median-Joining network of the mtDNA D-loop haplotypes were constructed for 22 pig breeds from 6 types. The results showed that a total of 144 mutation sites among 22 pig breeds were detected, 22 haplotypes were discovered, which indicated that Chinese indigenous pig breeds had abundant genetic diversity. According to the complete mtDNA genomic sequences analysis, which suggested that the main mutations was transition, the transition/transversion ratio was greater than 2.0 and all mutations were in line with the neutral mutation. Our findings clearly demonstrated that there was a near genetic distance among 6 types, meanwhile, the shared haplotypes were found. The phylogenetic tree showed that Chinese indigenous pigs from 6 types were diverged from two ancestors.The results indicated that mtDNA D-loop and Cytb gene might serve as molecular markers for phylogenesis, origin and evolution.     

贵州下司犬线粒体DNA控制区核苷酸序列分析

采用聚合酶链式反应和直接测序的方法,分析了贵州下司犬线粒体D-loop区序列。结果显示,该犬的线粒体D-loop全长1260bp,碱基序列中A、T含量明显高于G、C含量。其中有一段以串连方式排列、重复29次的序列,重复单元为TACACGT(A/G)CG。对该串连重复序列上游673bp的碱基序列进行分析,比较已知犬种相应碱基序列之间的差异,聚类分析结果显示下司犬与亚洲犬种的亲缘关系较近。     

Genetic variations and sequences analysis of MTATP6 and MTATP8 genes among different Chinese pig breeds

To investigate the genetic variations of mtATP6 and mtATP8 genes among different Chinese pig breeds, two fragments of 425 and 743 bp containing the whole coding region of mtATP8 and mtATP6 genes were amplified with 805 individuals from 23 Chinese local pig breeds, three types of Chinese wild boars and three European pig breeds. Sequence comparison identified a total number of 17 substitutions including six variable sites in mtATP8 and eleven substitutions in mtATP6 gene. The restriction enzyme Fok I revealed four polymorphic sites (nt8086, 8176, 8514 and 7784), and four RFLP haplotype patterns (A, B, C and D) were identified in mtATP6 and mtATP8 genes among all tested samples. Our data showed AC combined haplotype originated from Asia and BD was regarded as European origin. The average frequency of Asian mtDNA haplotypes was 38.3% across the investigated European breeds but varied within each breeds (13.3～76.7%). Phylogenetic analyses were performed also considering some published sequences in the databases; the sequences were divided into three distinct groups, denoted A, E1, and E2. The Asian AC haplotype existed among the European domestic pigs was fully consistent with the results of previous molecular studies and well-documented history. This study will help us to better understand the genetic variations of mitochondrial genes among different Chinese pig breeds.     

基于线粒体DNA D-loop区序列分析我国小型鹅种的系统进化

为了探究我国小型鹅种的系统进化,运用DNA测序技术测定了我国13个小型鹅种群体mtDNA D-loop区521 bp序列。结果显示这13个小型鹅种D-loop区的A、G、C、T含量分别为32.2%,15.0%,29.0%,23.8%。平均单倍型多样度和核苷酸多样度分别为0.2153和0.00046。13个家鹅种间变异大于种内变异,且均未出现群体扩张现象。群体聚类和系统进化树表明,伊犁鹅来源于灰雁（Anser anser）,其余12个鹅种来源于鸿雁（Ansercygnoides）     

猪钙蛋白酶抑制蛋白基因外显子9多态性检测及其对山西白猪背膘厚的影响

本研究采用PCR-SSCP方法检测了杜洛克猪、大白猪、长白猪、山西白猪、山西黑猪和马身猪6个品种共416头个体的钙蛋白酶抑制蛋白(calpastatin,CAST)基因外显子9的多态性,在扩增片段内检测到5个SNPs,分别是第37位的T→G突变、150位的A→G突变、167、193和256位点的C→T突变,其中第193和256位点的C→T突变位于外显子9内,为错义突变,分别引起苏氨酸→异亮氨酸和苏氨酸→蛋氨酸的转变;5个SNPs位点形成A、B、C、D、E、F和G 7种单倍型,其分布与猪的经济类型相一致。在引入猪种大白猪和杜洛克猪群体中,有3种单倍型A、B和C,单倍型B频率较高,分别为0.40和0.53;长白猪群体中只有B和C 2种单倍型,单倍型C频率较高,为0.72;马身猪除含有A、B、C 3种单倍型外,还含有单倍型E,频率为0.16。统计分析结果表明,CAST基因单倍型类型对山西白猪6月龄活体背膘厚无显著影响。     

A Genetic Diversity Analysis of Mitochondrial DNA D-loop Region in Four High Quality Chicken Breeds

This study was conducted to elucidate the genetic diversity of mitochondrial DNA (mtDNA) D-loop region in Qingyuan partridge chicken group 1,Qingyuan partridge chicken group 2,Yangshan chicken and Qingyuan Yellow feather black-bone chicken.The specific primers were designed according to mtDNA D-loop region of Gullus gullus spadiceus (accession No.:NC_007235.1) in GenBank.The sequence was analyzed after PCR amplification and sequencing,and the haplotype number,polymorphism number,haplotype diversity,nucleotide diversity and nucleotide mean difference were counted.The evolution divergence among breeds was calculated by Mega 5.10 software,and the phylogenetic tree was constructed.The results showed that the length of mtDNA D-loop region in four high quality chicken breeds was 591 bp,and 549 bp were used for subsequent analysis.The content of A,T,C and G were 27.2% to 27.3%,30.1% to 30.4%,29.5% to 29.8% and 12.8% to 12.9%,respectively,and the average content of G+C was 42.5%.There were 92 polymorphic sites which contained 14 singleton variable sites and 78 parsimony informative sites,and the percentage of transitions and transversions were 89.13% (82/92) and 10.87% (10/92),respectively.The haplotype diversity ranged from 0.682 to 0.835,and the nucleotide diversity ranged from 0.00849 to 0.01167.There were 32 haplotypes in all sequences,which could be divided into clades A,B,C and E,however,most of the individuals belonged to clades B (51.2%) and E (37.6%).The phylogenetic tree results showed that four high quality chicken breeds could be classified as 4 branches which were consistent with the haplotypes classification results.The results indicated that the four high quality chicken populations from Qingyuan had relatively high haplotype and nucleotide diversity and likely shared two or more common maternal lineages.     

四川黄牛品种线粒体DNA 遗传多样性研究

测定了四川黄牛5个品种的线粒体细胞色素b部分片段（420bp）42个个体以及28个个体线粒体DNA控制区（D-loop）的全序列，结合已报道的中国8个黄牛品种22个个体的线粒体DNA控制区（D-loop）全序列，分析结果表明：四川黄牛的部分Cytb基因片段有5个变异位点，7种单倍型可分为以2个单倍型为主的2大类型；线粒体DNA控制区检测到64个变异位点，28种单倍型，单倍型H1～H23为普通黄牛类型，单倍型H24～H28为瘤牛类型的单倍型。在四川黄牛中，67．86％为普通牛类型，32．14％为瘤牛类型。研究结果表明四川黄牛主要有2类母系来源。     

唐古拉山牦牛群体的母系遗传多样性及遗传结构分析

[目的]从分子水平上探究青海省唐古拉山牦牛群体的母系遗传多样性、群体遗传结构及其遗传背景。[方法] 对52头唐古拉山牦牛个体mtDNA D-loop区序列进行测定后,使用生物信息学软件分析确定其核苷酸变异位点和单倍型数目,计算单倍型多样度和核苷酸多样度大小,并进行系统发育分析。[结果] 在619 bp唐古拉山牦牛D-loop区序列分析中,排除2处插入（缺失）后共检测到31处多态位点,包括单一多态位点5处和简约信息位点26处。根据序列间核苷酸变异共确定了13种单倍型,单倍型多样度和核苷酸多样度分别为0.821±0.043和0.007±0.004。与我国其他18个家牦牛品种和野牦牛相比,唐古拉山牦牛群体单倍型多样度和核苷酸多样度值均较低,表明该群体遗传变异较为贫乏,母系遗传多样性水平较低。以美洲野牛为外群,邻接法（即NJ法）构建的系统发育树结果显示：唐古拉山牦牛群体13种单倍型分布在A、B、C、D和E五种单倍型组中,且聚为2个大的母系分支（即I和II）,支系Ⅰ占比为77%,提示唐古拉山牦牛由2个母系支系组成,拥有2个母系起源且以支系Ⅰ为主。 [结论] 唐古拉山牦牛母系遗传多样性水平较低,由2个母系支系组成,以支系Ⅰ为主,推测其有2个母系起源。     

建昌马mtDNA D-loop区遗传多样性及系统进化分析

试验旨在以线粒体DNA(mitochondrial DNA,mtDNA)为切入点,研究建昌马的母系遗传多样性与系统进化。从建昌马(n=39)血液中提取基因组DNA,用PCR方法扩增mtDNA D-loop区并直接测序,分析其高变区247 bp序列信息,统计mtDNA D-loop区的单倍型及变异位点,计算单倍型多样性(haplotype diversity,Hd)、核苷酸多样性(nucleotide diversity,Pi)和平均核苷酸变异数(average number of nucleotide differences,K)。构建包括建昌马在内的19个品种马的NJ系统进化树,计算各品种间的遗传距离。结果显示,试验获得了清晰的PCR扩增产物,并通过直接测序方法获得了约1200 bp的序列。39匹建昌马mtDNA D-loop区247 bp序列(其中1个样品缺失1 bp)的AT碱基含量为61.45%,属AT碱基对富集区,检测到33个多态性位点,共显示26种单倍型,其中4种为共享单倍型,且Hap7和Hap1为优势单倍型,单倍型多样性为0.947,核苷酸多样性为0.02399,平均核苷酸变异数为5.901,显示丰富的母系遗传多样性;NJ系统进化树显示,建昌马分布在A、C、D、E、F、G共6个支系中,约50%的样品分布在A支系,显示出复杂的母系起源;建昌马与关中马的遗传距离最小(0.021),其次是三河马、文山马、韩国车巨马(0.024),与韩国济州岛马遗传距离最大(0.032)。本研究结果表明,建昌马的mtDNA D-loop高变区遗传多样性丰富,具有多个母系起源,且A支系占有明显优势,与关中马、文山马可能有共同的母系起源。     

基于线粒体控制区的鸡不同杂交组合遗传多样性研究

旨在探讨鸡不同杂交组合线粒体控制区（mtDNA D-loop区）的遗传多样性和单倍型特性。选取固始鸡和隐性白羽鸡及其正、反交F1代、藏鸡以及F2代等6个群体共387个个体的mtDNA D-loop区进行测序,分析其遗传规律和单倍型特性,并与不同红色原鸡亚种进行聚类,分析其母系起源。结果显示,6个群体D-loop区全序列大小为1 231 bp,共检测到28个多态位点和1个C碱基缺失,共构成19种单倍型,分为A、B、C和E 4个单倍型群,其中,固始鸡和反交F1代主要为A、C单倍型,固始鸡A、C单倍型比例分别为53.42%和46.58%,反交F1代A、C单倍型比例分别为50.75%和49.25%;隐性白羽鸡、正交F1代和F2代优势单倍型均为E单倍型,占比分别为48.89%、48.84%和50.00%。6个鸡群体单倍型多样度（Hd）在0.496~0.729之间,核苷酸多样度（Pi）在0.003 40~0.005 41之间,Hd值和Pi值最大的均为正交F1代,其次为隐性白羽鸡和F2代,固始鸡和反交F1代群体遗传多样性接近。聚类分析显示,A、B单倍型群与滇南亚种交叉聚为一枝;E单倍型群与印度亚种交叉聚为一枝;C单倍型群与印度亚种、指名亚种、印尼亚种以及滇南亚种聚为一枝。结果提示,mtDNA D-loop区遵循严格的母系遗传,后代的遗传多样性和单倍型比例与其母本基本一致;我国家鸡群体具有多个红色原鸡母系起源,且主要起源于原鸡滇南亚种。     

SSCP技术用于牛mtDNA多态性检测的可行性研究

采用SSCP方法对523头牛线粒体DNA的D-loop序列和12S rRNA基因序列进行多态性研究，再结合DNA直接测序技术发现D-loop序列的SSCP结果与直接测序结果不相符，而12S rRNA的SSCP检测结果与测序结果相同，结果发现对于高变异率片段如线粒体DNA D-loop片段，不适合用 SSCP方法进行多态分析；而对于比较保守的片段，如12S rRNA片段适合用SSCP进行多态性分析。     

PCR-SSCP analysis of leptin gene and its association with milk production traits in river buffalo (Bubalus bubalis)

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.     

Genetic diversity of mtDNA D-loop sequences in four native Chinese chicken breeds

1. To explore the genetic diversity of Chinese indigenous chicken breeds, a 585 bp fragment of the mitochondrial DNA (mtDNA) region was sequenced in 102 birds from the Xichuan black-bone chicken, Yunyang black-bone chicken and Lushi chicken. In addition, 30 mtDNA D-loop sequences of Silkie fowls were downloaded from NCBI. The mtDNA D-loop sequence polymorphism and maternal origin of 4 chicken breeds were analysed in this study.

2. The results showed that a total of 33 mutation sites and 28 haplotypes were detected in the 4 chicken breeds. The haplotype diversity and nucleotide diversity of these 4 native breeds were 0.916 ± 0.014 and 0.012 ± 0.002, respectively. Three clusters were formed in 4 Chinese native chickens and 12 reference breeds. Both the Xichuan black-bone chicken and Yunyang black-bone chicken were grouped into one cluster. Four haplogroups (A, B, C and E) emerged in the median-joining network in these breeds.

3. It was concluded that these 4 Chinese chicken breeds had high genetic diversity. The phylogenetic tree and median network profiles showed that Chinese native chickens and its neighbouring countries had at least two maternal origins, one from Yunnan, China and another from Southeast Asia or its surrounding area.     

太湖流域地方猪种遗传结构评估和体重体尺性状差异相关选择位点鉴定

旨在解析太湖流域地方猪品种内部遗传结构,鉴定梅山猪亚群间、二花脸群体间和米猪群体间体重体尺性状差异的候选基因。试验采集440头猪样本(代表太湖流域地方猪最全面血统)进行基因芯片分型,并使用该基因分型数据集进行多种群体遗传学分析,明确太湖流域地方猪品种内部的遗传结构,并鉴定梅山猪亚群间、以及二花脸和米猪群体间体重体尺性状差异的候选SNP位点和候选基因。结果显示:在太湖流域地方猪种内部,二花脸猪与米猪间的亲缘关系最接近,其遗传距离小于梅山猪两个亚群间的遗传距离,并且拥有最为一致的进化路线。太湖流域地方猪各品种及梅山猪品种内两个亚群间都达到高度分化水平,Fst值均大于0.25,ADMIXTURE分析表明,包括梅山猪两个亚群在内的8个群体的群体结构不完全一致,在K=8时,各自展现出完全不同的祖先血统组成。通过梅山猪亚群间Fst分析、以及米猪和二花脸猪间Fst分析,在猪1、3和6号等染色体上,共鉴定到24个位点在两个分析中都表现出受选择状态,并在这些位点上下游50 kb范围注释到20个基因,其中有8个基因被报道与体重体尺性状相关。此外,受选择位点形成的选择区域与多个猪体重体尺相关QTLs重叠。试...     

猪GnRH受体基因多态性分析及相关基因组织表达谱的构建

促性腺激素释放激素(GnRH)受体基因与猪的繁殖性状密切相关,本试验对不同猪种的GnRH受体基因的编码区进行了SSCP分析,未发现多态性。在GnRH受体基因5′侧翼序列上设计引物扩增了该基因大约2000 bp的侧翼序列,通过比对设计引物,对其中的一段含有GAGABox的插入突变序列和一段由于点突变而形成转录调控蛋白结合序列IRF-1的区域运用SSCP的方法进行了多态性分析。结果表明在插入突变处,基因频率在不同的猪种间存在着很大的差异性,其中民猪与其他猪种的差异性最大。IRF突变只存在于民猪中,并且只存在AA型和AB型。构建了3头大白猪母猪GnRH基因、GnRH受体基因、卵泡抑素(FST)基因、促卵泡素(FSH)基因、FSH受体基因、促黄体素(LH)基因、抑制素(inhibin)β(a)基因、inhibinβ(b)基因的组织表达谱,根据表达谱可以推测在下丘脑-脑垂体-性腺轴外不存在这些基因表达产物的相互作用系统。     

Mitochondrial Profiles of the East Bulgarian and the Pleven Horse Breeds

It is well known that horse breeding in Bulgaria is a cultural heritage in Bulgaria, dating from prehistoric and historic times. Until now, molecular data on Bulgarian horses from the plain regions of the country were not available. Therefore, for the first time, we have collected genetic information about some modern horse breeds from the plain regions in Bulgaria. A total of 50 horses originating from different families from two different breeds were investigated: the first one was the Pleven horse (n = 11, breeding in the Danubian Plain), and the second one was the East Bulgarian horse breed (n = 39, Shumen district). These breeds were genotyped according to the mitochondrial D-loop region. The results showed that the Pleven horse particularly carries the European haplogroup L (45.45%), followed by the Middle East haplogroup C (27.27%). In contrast to the Pleven horse, the East Bulgarian horse breed revealed almost equal frequencies of the European specific haplogroup L (33.33%) and the Central Asiatic haplogroup Q (35.90%). Analyses of these two horse breeds revealed a specific genetic profile, but it is obvious that the East Bulgarian horse showed an unusual, mixed profile—a massive admixture with the Asiatic-type haplogroup Q and a high haplogroup diversity. In conclusion, the differences in genetic structure of the two plain horse breeds may be explained with the various horse breeds involved in their formation.