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Topic:Genotyping

Genotyping in horses involves analyzing the genetic makeup of individual horses to identify specific genetic markers. This process aids in understanding genetic variations that may influence traits such as coat color, disease susceptibility, and performance capabilities. Genotyping can be used in breeding programs to select for desirable traits and manage genetic diversity within populations. Common methods for genotyping include single nucleotide polymorphism (SNP) analysis and microsatellite markers. This page compiles peer-reviewed research studies and scholarly articles that explore the methodologies, applications, and implications of genotyping in equine genetics and breeding.
Population genetic study over 32,000 equines from Uruguay using seventeen forensically informative STR loci.
Forensic science international. Genetics    October 24, 2016   Volume 26 e19-e22 doi: 10.1016/j.fsigen.2016.10.011
Gastaldo AZ, Rodenbusch R, Fossati R, Azambuja CJ, Alho CS.No abstract available
Genetic diversity and population structure of Kazakh horses (Equus caballus) inferred from mtDNA sequences.
Genetics and molecular research : GMR    October 5, 2016   Volume 15, Issue 4 doi: 10.4238/gmr.15048618
Gemingguli M, Iskhan KR, Li Y, Qi A, Wunirifu W, Ding LY, Wumaierjiang A.The Kazakh horse is an important old horse breed in Xinjiang. They have contributed greatly to the breeding and improvement of other local horse breeds, yet their genetic diversity and population structure are not well understood. In the present study, we evaluated the genetic diversity of Kazakh horses and their relationship with other horse breeds using the mtDNA D-loop region, Cyt b gene, and a DNA fragment (nps 7974-9963, containing COX3, tRNA-Gly, ND3, and tRNA-Arg). A total of 130 Kazakh horses from 8 populations in China and Kazakhstan were analyzed. A total of 88 haplotypes (haplotype ...
Genotyping of German and Austrian Taylorella equigenitalis isolates using repetitive extragenic palindromic (REP) PCR and pulsed-field gel electrophoresis (PFGE).
Research in veterinary science    October 4, 2016   Volume 109 101-106 doi: 10.1016/j.rvsc.2016.09.017
Sting R, Seeh C, Mauder N, Maurer M, Loncaric I, Stessl B, Kopp P, Banzhaf K, Martin B, Melzer F, Raßbach A, Spergser J.A total of 124 Taylorella (T.) equigenitalis and five T. asinigenitalis field isolates collected between 2002 and 2014 were available for genotyping using REP- (repetitive extragenic palindromic) PCR and PFGE (pulsed-field gel electrophoresis). The study comprised 79 T. equigenitalis field isolates originating from ten defined breeds of German horses and revealed a spectrum of five REP (rep-E1-E4, rep-E3a) and 15 PFGE (TE-A1-A9, TE-B1-B3, TE-C, TE-E1, and TE-E2) genotypes. T. equigenitalis field isolates (n=40) obtained from Austrian Lipizzaner horses were differentiated into three REP (rep-E1...
Genetic characterization of equine herpesvirus 1 isolates from abortion outbreaks in India.
Archives of virology    October 3, 2016   Volume 162, Issue 1 157-163 doi: 10.1007/s00705-016-3097-z
Anagha G, Gulati BR, Riyesh T, Virmani N.Equine herpesvirus 1 (EHV1) is a common pathogen of horses that causes upper respiratory tract disease, abortion, neonatal death and neurological disease. The neurological form of disease is called equine herpesvirus myeloencephalopathy (EHM). During the past decade, the incidence of EHM has been on the rise in Europe, North America, Australia and Asia. Some EHV1 isolates causing EHM exhibit a single-nucleotide polymorphism (SNP) in the DNA polymerase gene (ORF30) at position 2254 (A to G). Further, based on polymorphism in the ORF68, EHV1 isolates have been classified into different groups. T...
Sequence variants of BIEC2-808543 near LCORL are associated with body composition in Thoroughbreds under training.
Journal of equine science    September 30, 2016   Volume 27, Issue 3 107-114 doi: 10.1294/jes.27.107
Tozaki T, Sato F, Ishimaru M, Kikuchi M, Kakoi H, Hirota KI, Nagata SI.Ligand-dependent nuclear receptor compressor-like (LCORL) encodes a transcription factor, and its polymorphisms are associated with measures of skeletal frame size and adult height in several species. Recently, the single nucleotide polymorphism (SNP) BIEC2-808543 located upstream of LCORL was identified as a genetic diagnostic marker associated with withers height in Thoroughbreds. In this study, 322 Thoroughbreds-in-training were genotyped for BIEC2-808543 to evaluate the association between genotype and body composition traits, including body weight, withers height, the ratio of body weight...
Detection of single nucleotide polymorphisms (SNP) in equine coat color genes using SNaPshotTM multiplex kit or pluronic F-108 tri-block copolymer and capillary electrophoresis.
Electrophoresis    September 12, 2016   Volume 37, Issue 21 2862-2866 doi: 10.1002/elps.201600245
Martin L, Damaso N, Mills D.Molecular methods for the detection of mammalian coat color phenotypes have expanded greatly within the past decade. Many phenotypes are associated with a single nucleotide polymorphism mutation in the genetic sequence. Traditionally, these mutations are detected through sequencing, hybridization assays or mini-sequencing. However, these techniques can be expensive and tedious. Previously, CE-SSCP using the F-108 polymer was able to distinguish SNPs for the melanocortin-1 receptor (mc1r) coat color gene in horses (Equus caballus) that differed by one nucleotide substitution. The objective of t...
A novel MITF variant in a white American Standardbred foal.
Animal genetics    September 5, 2016   Volume 48, Issue 1 123-124 doi: 10.1111/age.12484
Dürig N, Jude R, Jagannathan V, Leeb T.No abstract available
Genetic diversity of Thoroughbred horse population from Bosnia and Herzegovina based on 17 microsatellite markers.
The Japanese journal of veterinary research    September 1, 2016   Volume 64, Issue 3 215-220 
Rukavian D, Hasanbasic D, Ramic J, Zahirovic A, Ajanovic A, Beganovic K, Durmic-Pasic A, Kalamujic B, Pojskic N.The focus of this study was on genetic diversity of TB horse population raised in B&H. Genomic DNA was genotyped by using 17 microsatellite markers. A total of 103 alleles were detected. The average number of alleles per locus was 6.059 and effective number of alleles was 3.293. Means of observed and expected heterozygosity were calculated 0.645 and 0.696, respectively. The average PIC values was 0.649 and inbreeding coefficient was 0.090. Based on all observed parameters, ASB2 locus showed the highest genetic diversity while locus HMS2 was the least diverse. These results suggest that the pop...
Genetic characterization of Cryptosporidium in animal and human isolates from Jordan.
Veterinary parasitology    August 21, 2016   Volume 228 116-120 doi: 10.1016/j.vetpar.2016.08.015
Hijjawi N, Mukbel R, Yang R, Ryan U.Little is known about the epidemiology of Cryptosporidium in Jordan and to date, only one genotyping study has been conducted on Cryptosporidium isolates from Jordanian children. In the present study, a total of 284 faecal samples from Jordanian cattle, sheep, goats and chicken and 48 human faecal samples were screened for the presence of Cryptosporidium using an 18S quantitative PCR (qPCR) and a C. parvum/C. hominis specific qPCR at a lectin locus. Of these, 37 of 284 animal faecal samples were positive by qPCR at the 18S locus giving an overall prevalence of 11.6%. The point prevalence of Cr...
The origin of ambling horses.
Current biology : CB    August 10, 2016   Volume 26, Issue 15 R697-R699 doi: 10.1016/j.cub.2016.07.001
Wutke S, Andersson L, Benecke N, Sandoval-Castellanos E, Gonzalez J, Hallsson JH, Lõugas L, Magnell O, Morales-Muniz A, Orlando L, Pálsdóttir AH....Horseback riding is the most fundamental use of domestic horses and has had a huge influence on the development of human societies for millennia. Over time, riding techniques and the style of riding improved. Therefore, horses with the ability to perform comfortable gaits (e.g. ambling or pacing), so-called 'gaited' horses, have been highly valued by humans, especially for long distance travel. Recently, the causative mutation for gaitedness in horses has been linked to a substitution causing a premature stop codon in the DMRT3 gene (DMRT3_Ser301STOP) [1]. In mice, Dmrt3 is expressed in spinal...
Heritability of Recurrent Exertional Rhabdomyolysis in Standardbred and Thoroughbred Racehorses Derived From SNP Genotyping Data.
The Journal of heredity    August 3, 2016   Volume 107, Issue 6 537-543 doi: 10.1093/jhered/esw042
Norton EM, Mickelson JR, Binns MM, Blott SC, Caputo P, Isgren CM, McCoy AM, Moore A, Piercy RJ, Swinburne JE, Vaudin M, McCue ME.Recurrent exertional rhabdomyolysis (RER) in Thoroughbred and Standardbred racehorses is characterized by episodes of muscle rigidity and cell damage that often recur upon strenuous exercise. The objective was to evaluate the importance of genetic factors in RER by obtaining an unbiased estimate of heritability in cohorts of unrelated Thoroughbred and Standardbred racehorses. Four hundred ninety-one Thoroughbred and 196 Standardbred racehorses were genotyped with the 54K or 74K SNP genotyping arrays. Heritability was calculated from genome-wide SNP data with a mixed linear and Bayesian model, ...
Effects of fentanyl administration on locomotor response in horses with the G57C μ-opioid receptor polymorphism.
American journal of veterinary research    July 28, 2016   Volume 77, Issue 8 828-832 doi: 10.2460/ajvr.77.8.828
Wetmore LA, Pascoe PJ, Shilo-Benjamini Y, Lindsey JC.OBJECTIVE To determine the locomotor response to the administration of fentanyl in horses with and without the G57C polymorphism of the μ-opioid receptor. ANIMALS 20 horses of various breeds and ages (10 horses heterozygous for the G57C polymorphism and 10 age-, breed-, and sex-matched horses that did not have the G57C polymorphism). PROCEDURES The number of steps each horse took was counted over consecutive 2-minute periods for 20 minutes to determine a baseline value. The horse then received a bolus of fentanyl (20 μg/kg, IV), and the number of steps was again counted during consecutive 2-...
Identification of copy number variations in three Chinese horse breeds using 70K single nucleotide polymorphism BeadChip array.
Animal genetics    July 21, 2016   Volume 47, Issue 5 560-569 doi: 10.1111/age.12451
Kader A, Liu X, Dong K, Song S, Pan J, Yang M, Chen X, He X, Jiang L, Ma Y.Copy number variation (CNV), an essential form of genetic variation, has been increasingly recognized as one promising genetic marker in the analysis of animal genomes. Here, we used the Equine 70K single nucleotide polymorphism genotyping array for the genome-wide detection of CNVs in 96 horses from three diverse Chinese breeds: Debao pony (DB), Mongolian horse (MG) and Yili horse (YL). A total of 287 CNVs were determined and merged into 122 CNV regions (CNVRs) ranging from 199 bp to 2344 kb in size and distributed in a heterogeneous manner on chromosomes. These CNVRs were integrated with s...
Candidate gene analysis of osteochondrosis in Spanish Purebred horses.
Animal genetics    July 16, 2016   Volume 47, Issue 5 570-578 doi: 10.1111/age.12453
Sevane N, Dunner S, Boado A, Cañon J.Equine osteochondrosis (OC) is a frequent developmental orthopaedic disease with high economic impact on the equine industry and may lead to premature retirement of the animal as a result of chronic pain and lameness. The genetic background of OC includes different genes affecting several locations; however, these genetic associations have been tested in only one or few populations, lacking the validation in others. The aim of this study was to identify the genetic determinants of OC in the Spanish Purebred horse breed. For that purpose, we used a candidate gene approach to study the associati...
Large Deletions at the SHOX Locus in the Pseudoautosomal Region Are Associated with Skeletal Atavism in Shetland Ponies.
G3 (Bethesda, Md.)    July 7, 2016   Volume 6, Issue 7 2213-2223 doi: 10.1534/g3.116.029645
Rafati N, Andersson LS, Mikko S, Feng C, Raudsepp T, Pettersson J, Janecka J, Wattle O, Ameur A, Thyreen G, Eberth J, Huddleston J, Malig M, Bailey E....Skeletal atavism in Shetland ponies is a heritable disorder characterized by abnormal growth of the ulna and fibula that extend the carpal and tarsal joints, respectively. This causes abnormal skeletal structure and impaired movements, and affected foals are usually killed. In order to identify the causal mutation we subjected six confirmed Swedish cases and a DNA pool consisting of 21 control individuals to whole genome resequencing. We screened for polymorphisms where the cases and the control pool were fixed for opposite alleles and observed this signature for only 25 SNPs, most of which we...
Single nucleotide polymorphisms of Kit gene in Chinese indigenous horses.
The Japanese journal of veterinary research    June 29, 2016   Volume 64, Issue 1 81-89 
Han H, Mao C, Chen N, Lan X, Chen H, Lei C, Dang R.Kit gene is a genetic determinant of horse white coat color which has been a highly valued trait in horses for at least 2,000 years. Single nucleotide polymorphisms (SNPs) in Kit are of importance due to their strong associations with melanoblast survival during embryonic development. In this study, a mutation analysis of all 21 Kit exons in 14 Chinese domestic horse breeds revealed six SNPs (g.91214T>G, g.143245T>G, g.164297C>T, g.170189C>T, g.171356C>G, and g.171471G>A), which located in 5'-UTR region, intron 6, exon 15, exon 20, intron 20, and exon 21 of the equine Kit gene, respectively. S...
Redundant contribution of a Transient Receptor Potential cation channel Member 1 exon 11 single nucleotide polymorphism to equine congenital stationary night blindness.
BMC veterinary research    June 21, 2016   Volume 12, Issue 1 121 doi: 10.1186/s12917-016-0745-1
Scott ML, John EE, Bellone RR, Ching JC, Loewen ME, Sandmeyer LS, Grahn BH, Forsyth GW.Congenital stationary night-blindness (CSNB) is a recessive autosomal defect in low-light vision in Appaloosa and other horse breeds. This condition has been mapped by linkage analysis to a gene coding for the Transient Receptor Potential cation channel Member 1 (TRPM1). TRPM1 is normally expressed in the ON-bipolar cells of the inner nuclear layer of the retina. Down-regulation of TRPM1 expression in CSNB results from a transposon-like insertion in intron 1 of the TRPM1 gene. Stop transcription signals in this transposon significantly reduce TRPM1 primary transcript levels in CSNB horses. Thi...
Comparison of DMRT3 genotypes among American Saddlebred horses with reference to gait.
Animal genetics    June 14, 2016   Volume 47, Issue 5 603-605 doi: 10.1111/age.12458
Regatieri IC, Eberth JE, Sarver F, Lear TL, Bailey E.Horse owners choose whether or not to train American Saddlebred horses (ASHs) to perform the 4-beat gaits called rack and slow gait. The rack and slow gait are similar to ambling gaits shown to be associated with variation in the DMRT3 gene in other breeds but are trained rather than naturally occurring gaits. A premature stop codon in the DMRT3 gene (DMRT3_Ser301STOP) caused by the Ch23:g.22999655C>A SNP has an effect on the pattern of locomotion in horses and allows for the pacing gait and strong association with performance of ambling gaits in diverse breeds. We used horse show records to i...
Cryptic Diversity of Malassezia pachydermatis from Healthy and Diseased Domestic Animals.
Mycopathologia    June 9, 2016   Volume 181, Issue 9-10 681-688 doi: 10.1007/s11046-016-0026-3
Puig L, Castellá G, Cabañes FJ.Malassezia pachydermatis is part of the normal cutaneous microbiota of wild and domestic carnivores. However, under certain conditions this yeast can overproliferate and cause several diseases in its host, mainly otitis and dermatitis in dogs. The aim of this study was to conduct a molecular characterization of M. pachydermatis isolates from healthy and diseased domestic animals, in order to assess the molecular diversity and phylogenetic relationship within this species. The large subunit (LSU) and the internal transcribed spacer (ITS) of ribosomal RNA, chitin synthase 2 (CHS2) and β-tubulin...
Genome-wide association study for semen quality traits in German Warmblood stallions.
Animal reproduction science    June 8, 2016   Volume 171 81-86 doi: 10.1016/j.anireprosci.2016.06.002
Gottschalk M, Metzger J, Martinsson G, Sieme H, Distl O.We performed a genome-wide association study for semen quality traits in 139 German Warmblood stallions. Stallions were genotyped using the Illumina equine SNP50 Beadchip. Traits analysed were de-regressed estimated breeding values (EBVs) for gel-free volume, sperm concentration, total number of sperm, progressive motility and the total number of progressively motile sperm. The GWAS revealed 29 SNPs on 12 different chromosomes as genome-wide significantly associated with semen quality traits. For ten genomic regions we could retrieve candidate genes influencing stallion fertility. Among the ca...
Common occurrence of Cryptosporidium hominis in horses and donkeys. Jian F, Liu A, Wang R, Zhang S, Qi M, Zhao W, Shi Y, Wang J, Wei J, Zhang L, Xiao L.Extensive genetic variation is observed within the genus Cryptosporidium and the distribution of Cryptosporidium species/genotypes in humans and animals appears to vary by geography and host species. To better understand the genetic diversity of Cryptosporidium spp. in horses and donkeys, we characterized five horse-derived and 82 donkey-derived Cryptosporidium isolates from five provinces or autonomous regions (Sichuan, Gansu, Henan, Inner Mongolia and Shandong) in China at the species/genotype and subtype levels. Three Cryptosporidium species/genotypes were identified based on the analysis o...
Mitochondrial diversity in mountain horse population from the South-Eastern Europe.
Mitochondrial DNA. Part A, DNA mapping, sequencing, and analysis    June 1, 2016   Volume 28, Issue 6 787-792 doi: 10.1080/24701394.2016.1186667
Hristov P, Yordanov G, Ivanova A, Mitkov I, Sirakova D, Mehandzyiski I, Radoslavov G.It is believed that population structure of mountain horse breeds is preserved from any genetic introgression, because of their geographical isolation and specific semi-wild life style of husbandry. Till date there are no molecular data for the Balkan horses. In this study we try to give information about some autochthonous mountain horse breeds from Bulgaria. A total of 121 horses from three different mountain massifs are presented: Stara Planina (the Balkan mountain), the Rhodopes and Rila-Pirin massif were genotyped according to mitochondrial D-loop region. The results showed huge diversity...
Detection and Genotyping of Coxiella burnetii and Coxiella-Like Bacteria in Horses in South Korea.
PloS one    May 31, 2016   Volume 11, Issue 5 e0156710 doi: 10.1371/journal.pone.0156710
Seo MG, Lee SH, VanBik D, Ouh IO, Yun SH, Choi E, Park YS, Lee SE, Kim JW, Cho GJ, Kwon OD, Kwak D.Coxiella burnetii and Coxiella-like bacteria (CLB) are genetically and ecologically distinct despite some genetic similarities. Furthermore, CLB are exceptionally diverse and widespread in ticks, but rarely detected in domestic animals. Since Coxiella bacteria can be transmitted from infected horses by inhalation or by coming in contact with ticks during activities such as horseback riding, it is necessary to study their prevalence. To the best of our knowledge, this is the first large-scale nationwide investigation of the prevalence of C. burnetii and CLB among horses reared in South Korea. O...
Detection and quantification of Cryptosporidium oocysts in environmental surfaces of an Equine Perinatology Unit.
Preventive veterinary medicine    May 27, 2016   Volume 131 67-74 doi: 10.1016/j.prevetmed.2016.04.012
Piva S, Caffara M, Pasquali F, Castagnetti C, Iacono E, Massella E, Zanoni RG, Galuppi R.The presence of Cryptosporidium in institutions such as veterinary teaching hospitals, where students and staff are in frequent contact with animals, could represent a serious public health risk. In this study the detection and quantification of the Cryptosporidium oocysts present on the environmental surfaces of an Equine Perinatology Unit (EPU) were investigated. During 3 foaling seasons 175 samples obtained by swabbing an area of the floor and walls of boxes and utility rooms of EPU with sterile gauze, in 3 different moments. Samples were collected at the end of foaling season (July), after...
Distribution of coat-color-associated alleles in the domestic horse population and Przewalski’s horse.
Journal of applied genetics    May 18, 2016   Volume 57, Issue 4 519-525 doi: 10.1007/s13353-016-0352-7
Reissmann M, Musa L, Zakizadeh S, Ludwig A.Considering the hidden mode of inheritance of some coat-color-associated alleles, we investigated the presence/absence of coat-color-associated alleles in 1093 domestic horses of 55 breeds and 20 specimens of Przewalski's horse. For coat-color genotyping, allele specific PCR, pyrosequencing and Li-Cor analyses were conducted on 12 coat-color-associated alleles of five genes. Our data provide deep insight into the distribution of coat-color-associated alleles within breeds. We found that the alleles for the basic colorations (bay, black, and chestnut) are widely distributed and occur in nearly ...
Conformation Traits and Gaits in the Icelandic Horse are Associated with Genetic Variants in Myostatin (MSTN).
The Journal of heredity    May 13, 2016   Volume 107, Issue 5 431-437 doi: 10.1093/jhered/esw031
François L, Jäderkvist Fegraeus K, Eriksson S, Andersson LS, Tesfayonas YG, Viluma A, Imsland F, Buys N, Mikko S, Lindgren G, Velie BD.Many genes are known to have an influence on conformation and performance traits; however, the role of one gene, Myostatin (MSTN), has been highlighted in recent studies on horses. Myostatin acts as a repressor in the development and regulation of differentiation and proliferative growth of skeletal muscle. Several studies have examined the link between MSTN, conformation, and performance in racing breeds, but no studies have investigated the relationship in Icelandic horses. Icelandic horses, a highly unique breed, are known both for their robust and compact conformation as well as their addi...
Host genetic influence on papillomavirus-induced tumors in the horse.
International journal of cancer    May 6, 2016   Volume 139, Issue 4 784-792 doi: 10.1002/ijc.30120
Staiger EA, Tseng CT, Miller D, Cassano JM, Nasir L, Garrick D, Brooks SA, Antczak DF.The common equine skin tumors known as sarcoids have been causally associated with infection by bovine papillomavirus (BPV). Additionally, there is evidence for host genetic susceptibility to sarcoids. We investigated the genetic basis of susceptibility to sarcoid tumors on a cohort of 82 affected horses and 270 controls genotyped on a genome-wide platform and two custom panels. A Genome Wide Association Study (GWAS) identified candidate regions on six chromosomes. Bayesian probability analysis of the same dataset verified only the regions on equine chromosomes (ECA) 20 and 22. Fine mapping us...
Genome-wide association mapping of heritable temperament variation in the Tennessee Walking Horse.
Genes, brain, and behavior    May 5, 2016   Volume 15, Issue 5 514-526 doi: 10.1111/gbb.12290
Staiger EA, Albright JD, Brooks SA.Temperament is a key criterion in the selection of horses for both leisure and competitive riding to ensure optimal performance and safety. The Tennessee Walking Horse (TWH) is described as a calm, docile breed and is often used as a trail, show and pleasure horse. However, among horse owners and caretakers, there are anecdotes supporting familial and disciplinal typical behaviors and personalities. To investigate the contribution of genetics to temperament, we collected a behavior questionnaire, brief training history and identifying information for 276 TWH, as well as blood or hair samples f...
Loci impacting polymorphic gait in the Tennessee Walking Horse.
Journal of animal science    May 3, 2016   Volume 94, Issue 4 1377-1386 doi: 10.2527/jas.2015-9936
Staiger EA, Abri MA, Silva CA, Brooks SA.Following domestication, man selected the horse primarily for the purpose of transportation rather than consumption; this selective strategy created divergent traits for locomotion. At intermediate speeds, beyond the flat walk, the horse can perform a range of diagonal and lateral 2-beat or 4-beat gait patterns. The Tennessee Walking Horse (TWH) is the only U.S. breed able to perform an even-timed 4-beat gait (the "running-walk") at intermediate speeds; however, within the breed, there is remaining variation in gait type. To investigate the contribution of genetics to this unique trait, blood ...
Is Malassezia nana the main species in horses’ ear canal microbiome?
Brazilian journal of microbiology : [publication of the Brazilian Society for Microbiology]    April 29, 2016   Volume 47, Issue 3 770-774 doi: 10.1016/j.bjm.2016.04.017
Aldrovandi AL, Osugui L, Acqua Coutinho SD.The objective of this study was to characterize genotypically Malassezia spp. isolated from the external ear canal of healthy horses. Fifty-five horses, 39 (70.9%) males and 16 (29.1%) females, from different breeds and adults were studied. External ear canals were cleaned and a sterile cotton swab was introduced to collect cerumen. A total of 110 samples were cultured into Dixon medium and were incubated at 32°C for up to 15 days. Macro- and micromorphology and phenotypic identification were performed. DNA was extracted, strains were submitted to polymerase chain reaction technique, and the ...
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