Genetic diversity of SNPs associated with candidate genes for heat stress in Coreño Creole cattle in Mexico.

Mexican Coreño Creole cattle are an important genetic resource adapted to local environmental conditions, so the study of their genetic diversity is essential to know their status and implement conservation programs and their use for crossbreeding. This study evaluated the genetic diversity of heat stress tolerance characteristics of Coreño Creole cattle, and a gene ontology enrichment was performed to know the biological processes in which candidate genes are involved. A total of 48 samples from three localities of Nayarit were genotyped using 777 K Illumina BovineHD BeadChip and 34 single nucleotide polymorphisms associated with candidate genes were selected. Genetic diversity was analyzed using allelic frequencies, expected heterozygosity (He), and Wright's fixation index (FST) using PLINK v1.9 software. Candidate genes were uploaded to the open-source GOnet for pathway analysis and linkage to biological processes. Coreño Creole cattle showed low genetic diversity (He = 0.35), the average FST obtained was 0.044, and only eight markers had allele frequencies higher than 0.80 in the three locations. We found that the genes GOT1 and NCAD are related in the biological processes of stress response, cell differentiation, and homeostatic process. The results revealed that Coreño Creole cattle have low genetic diversity; this could be due to the isolation of these populations.

Bovine TMEM95 gene: Polymorphisms detecting in five Chinese indigenous cattle breeds and their association with growth traits

BACKGROUND: Transmembrane protein 95 (TMEM95) plays a role in male fertility. Previous studies showed that genes with a significant impact on reproductive traits can also affect the growth traits of livestock. Thus, we speculated that the genetic variation of TMEM95 gene may have effects on growth traits of cattle. RESULTS: Two SNPs were genotyped. The rs136174626 and rs41904693 were in the intron 4 and 30 -untranslated region, respectively. The linkage disequilibrium analysis illustrated that these two loci were not linked. The rs136174626 was associated with six growth traits of Nanyang cattle, four traits of Luxi cattle, and three traits of Ji'an cattle. For rs41904693 locus, the GG individuals had greater body height and abdominal girth in Ji' an cattle than TT and TG individuals. In Jinnan cattle, GG and TT individuals had greater body height, height at hip cross, body length, and heart girth than TG individuals. The potential splice site prediction results suggest that the rs136174626 may influence the splicing efficiency of TMEM95, and the miRNA binding site prediction results showed that the rs41904693 may influence the expression of TMEM95 by affecting the binding efficiency of Bta-miR-1584 and TMEM95 30 -UTR. CONCLUSIONS: The findings of the study suggested that the two SNPs in TMEM95 could be a reliable basis for molecular breeding in cattle.

Selected genome regions for fruit weight and shelf life in tomato RILs discernible by markers based on genomic sequence information.

Fruit weight (FW) and shelf life (SL) are important traits in commercial fresh market tomatoes. A tomato RIL population was developed by antagonistic and divergent selection for both traits from an interspecific cross between the Solanum lycopersicum L. cv. "Caimanta" and the S. pimpinellifolium L. accession "LA0722". The objective of this work was to evaluate phenotypic and genetic components for FW and SL. Phenotypic data from RILs were collected during 3-year trials. Sixteen SSR, 62 InDels developed based on the genome sequences of "Caimanta" and "LA0722", and four functional markers for fruit size genes were used. FW and SL had a significant genetic variability, and both traits showed a genotype by year interaction. Genome-wide molecular characterization of the population demonstrated that is genetically structured according to FW. Marker data was used to study changes on allelic frequencies at loci between the phenotypic extreme group of RILs for FW and SL. Twenty four markers were associated to FW, the LC gene in chromosome 2 and other six markers in chromosomes 1, 2, 6, and 11 presented the most significant associations. Finally, we reported three new genomic regions located on chromosomes 9, 10 and 12 that underlie SL in tomato.

Non-invasive prenatal testing as a valuable source of population specific allelic frequencies.

Low-coverage massively parallel genome sequencing for non-invasive prenatal testing (NIPT) of common aneuploidies is one of the most rapidly adopted and relatively low-cost DNA tests. Since aggregation of reads from a large number of samples allows overcoming the problems of extremely low coverage of individual samples, we describe the possible re-use of the data generated during NIPT testing for genome scale population specific frequency determination of small DNA variants, requiring no additional costs except of those for the NIPT test itself. We applied our method to a data set comprising of 1501 original NIPT test results and evaluated the findings on different levels, from in silico population frequency comparisons up to wet lab validation analyses using a gold-standard method based on Sanger sequencing. The revealed high reliability of variant calling and allelic frequency determinations suggest that these NIPT data could serve as valuable alternatives to large scale population studies even for smaller countries around the world.

Screening of TNF-α gene polymorphisms in patients with extremity chronic osteomyelitis in China.

AIM: This study aims to investigate the link between TNF-α gene SNPs and patients with extremity chronic osteomyelitis in China. METHODOLOGY: Our study included 433 subjects, composed of 233 extremity chronic osteomyelitis patients and 200 controls. Six single-nucleotide polymorphisms (rs1799964, rs1800630, rs1799724, rs1800750, rs1800629 and rs361525) in TNF-α gene were detected by the SNaPshot genotyping method. RESULTS: Significant genotype distribution of rs1799964 was identified between patients and healthy controls (p = 0.045). In addition, statistical difference was found between rs1799964 SNP and the susceptibility to extremity chronic osteomyelitis (p = 0.044). CONCLUSION: We reported for the first time that TNF-α gene SNP rs1799964 contributes to the elevated venture of extremity chronic osteomyelitis in China.

Allelic frequencies of 60 pharmacogene variants assessed within a Burmese population residing in northeast Indiana, USA.

AIM: The aim of this study was to investigate 60 SNPs pertaining to drug metabolism and pharmacodynamics in the Burmese refugee population in the Fort Wayne, Indiana area to better inform patient care. MATERIALS & METHODS: Sixty-two self-identified Burmese refugees were genotyped for 60 common SNPs pertaining to pharmacokinetic and pharmacodynamic pharmacogenes. The resulting allelic frequencies were compared with Ensembl's database for surrounding populations to Myanmar and America. RESULTS: The frequency of OPRM1, CYP2D6, SLCO1B1, MTHFR and VKORC1 were approximately 20% different in the Burmese refugee population as compared with the Ensembl populations. CONCLUSION: Our study demonstrates that genetic differences are expected to affect drug efficacy in patients with a Burmese background.

Temporal genetic differentiation in Glossina pallidipes tsetse fly populations in Kenya.

BACKGROUND: Glossina pallidipes is a major vector of both Human and Animal African Trypanosomiasis (HAT and AAT) in Kenya. The disease imposes economic burden on endemic regions in Kenya, including south-western Kenya, which has undergone intense but unsuccessful tsetse fly control measures. We genotyped 387 G. pallidipes flies at 13 microsatellite markers to evaluate levels of temporal genetic variation in two regions that have been subjected to intensive eradication campaigns from the 1960s to the 1980s. One of the regions, Nguruman Escarpment, has been subject to habitat alteration due to human activities, while the other, Ruma National Park, has not. In addition, Nguruman Escarpment is impacted by the movement of grazing animals into the area from neighboring regions during the drought season. We collected our samples from three geographically close sampling sites for each of the two regions. Samples were collected between the years 2003 and 2015, spanning ~96 tsetse fly generations. RESULTS: We established that allelic richness averaged 3.49 and 3.63, and temporal Ne estimates averaged 594 in Nguruman Escarpment and 1120 in Ruma National Park. This suggests that genetic diversity is similar to what was found in previous studies of G. pallidipes in Uganda and Kenya, implying that we could not detect a reduction in genetic diversity following the extensive control efforts during the 1960s to the 1980s. However, we did find differences in temporal patterns of genetic variation between the two regions, indicated by clustering analysis, pairwise FST, and Fisher's exact tests for changes in allele and genotype frequencies. In Nguruman Escarpment, findings indicated differentiation among samples collected in different years, and evidence of local genetic bottlenecks in two locations previous to 2003, and between 2009 and 2015. In contrast, there was no consistent evidence of differentiation among samples collected in different years, and no evidence of local genetic bottlenecks in Ruma National Park. CONCLUSION: Our findings suggest that, despite extensive control measures especially between the 1960s and the 1980s, tsetse flies in these regions persist with levels of genetic diversity similar to that found in populations that did not experience extensive control measures. Our findings also indicate temporal genetic differentiation in Nguruman Escarpment detected at a scale of > 80 generations, and no similar temporal differentiation in Ruma National Park. The different level of temporal differentiation between the two regions indicates that genetic drift is stronger in Nugruman Escarpment, for as-yet unknown reasons, which may include differences in land management. This suggests land management may have an impact on G. pallidipes population genetics, and reinforces the importance of long term monitoring of vector populations in estimates of parameters needed to model and plan effective species-specific control measures.

Joint genome-wide prediction in several populations accounting for randomness of genotypes: A hierarchical Bayes approach. I: Multivariate Gaussian priors for marker effects and derivation of the joint probability mass function of genotypes.

It is important to consider heterogeneity of marker effects and allelic frequencies in across population genome-wide prediction studies. Moreover, all regression models used in genome-wide prediction overlook randomness of genotypes. In this study, a family of hierarchical Bayesian models to perform across population genome-wide prediction modeling genotypes as random variables and allowing population-specific effects for each marker was developed. Models shared a common structure and differed in the priors used and the assumption about residual variances (homogeneous or heterogeneous). Randomness of genotypes was accounted for by deriving the joint probability mass function of marker genotypes conditional on allelic frequencies and pedigree information. As a consequence, these models incorporated kinship and genotypic information that not only permitted to account for heterogeneity of allelic frequencies, but also to include individuals with missing genotypes at some or all loci without the need for previous imputation. This was possible because the non-observed fraction of the design matrix was treated as an unknown model parameter. For each model, a simpler version ignoring population structure, but still accounting for randomness of genotypes was proposed. Implementation of these models and computation of some criteria for model comparison were illustrated using two simulated datasets. Theoretical and computational issues along with possible applications, extensions and refinements were discussed. Some features of the models developed in this study make them promising for genome-wide prediction, the use of information contained in the probability distribution of genotypes is perhaps the most appealing. Further studies to assess the performance of the models proposed here and also to compare them with conventional models used in genome-wide prediction are needed.

Genetic polymorphism of 8 Y-STR loci in native population of Isfahan province in central part of Iran.

BACKGROUND: Y-chromosome short tandem repeats (Y-STRs) are genetic markers with practical applications in human identification and population studies. AIM: Here we present the allelic and haplotype frequencies of 8 Y-STR loci most commonly used in forensic medicine in 103 unrelated native males of Isfahan province, central part of Iran. SUBJECTS AND METHODS: The cases were selected on the basis of strict criteria to assure pure native populations of Isfahan origin. DNA extracted from peripheral blood samples and PCR amplified for each marker. Y-specific STR loci DYS19, DYS385, DYS389I, DYS389II, DYS390, DYS391, DYS392 and DYS393 were included in this study. RESULTS: The most common alleles for each locus were: DYS19, allele 12; DYS385, allele 12; DYS389I, allele 13; DYS389II, allele 29; DYS390, allele 24; DYS391, allele 10; DYS392, allele 11; and DYS393, allele 13. Gene diversity value was calculated from the allelic frequency for each locus. The average gene diversity was 0.6518. A total of 101 haplotypes were observed in eight Y-specific STR loci, the haplotype diversity was raised to 0.986. CONCLUSION: The results revealed that a set of eight Y-specific STR loci were able to discriminate most of the male individuals in the population studied. A search through the Y Haplotype Reference Database demonstrated 21 matched haplotypes to 160,693 haplotypes, exclusively with Eurasian-European, Eurasian, and Eurasian-Indo Iranian populations.

Genetic distribution of 15 autosomal STR markers in the Punjabi population of Pakistan.

Genetic diversity of 15 autosomal short tandem repeat (STR) loci was evaluated in 713 unrelated individual samples of a Punjabi population of Pakistan. These loci were scrutinized to establish allelic frequencies and statistical parameters of forensic and paternity interests. A total of 165 alleles were observed with the corresponding allele frequencies ranging from 0.001 to 0.446. D2S1338 was found as the most informative locus while TPOX (0.611) was the least discriminating locus. The combined power of discrimination (CPD), the combined probability of exclusion (CPE), and cumulative probability of matching (CPM) were found equaled to 0.999999999999999998606227424808, 0.999995777557989, and 1.37543 × 10-18, respectively. All the loci followed the Hardy-Weinberg equilibrium after the Bonferroni correction (p < 0.0033) except one locus D3S1358. The study revealed that these STR loci are highly polymorphic, suitable for forensic and parentage analyses. In comparison to different populations (Asians and non-Asians), significant differences were recorded for these loci.

Is Turkish MEFV Mutations Spectrum Different Among Regions?

BACKGROUND: Familial Mediterranean fever (FMF) is an autosomal recessive inherited inflammatory disease. The gene responsible for the disease, called MEFV, encodes a protein called pyrin or marenostrin. According to recent data, MEFV mutations are not the only cause of FMF, but genetic analysis of MEFV gene is needed for confirming the diagnosis of FMF. In the present study, we aimed to evaluate the molecular testing results of MEFV mutations. METHODS: Molecular testing results of 1,435 patients were retrospectively evaluated over the last 4 years. These patients were identified as having FMF clinical symptoms. Patients were tested for 12 common mutations in the MEFV gene using a strip assay technique. RESULTS: From all 1,435 patients, MEFV mutations were found in 776 patients (54.08%) and 659 patients (45.92%) did not carry any mutations. Patients with mutations were classified as homozygotes (n = 148), compound heterozygotes (n = 197), heterozygous (n = 427), and complex genotypes (n = 4, patients with three mutations). Allelic frequencies for the four most common mutations in the mutation-positive groups were 48.79% (M694V), 14.86% (M680I G/C), 13.70% (E148Q), and 12.35% (V726A). The remaining alleles (10.3%) showed rare mutations that were R761H, P369S, A744S, K695R, F479L, and M694I. No patient showed a I692del mutation that is sometimes evident in other Mediterranean populations. CONCLUSION: It was found that the most common four mutations (M694V, M680I [G/C], E148Q, V726A) were similar to those previously reported from different regions of Turkey and this study might add some knowledge to the mutational spectrum data on FMF.

The spectrum of MEFV gene mutations and genotypes in Van province, the eastern region of Turkey, and report of a novel mutation (R361T).

Familial Mediterranean fever (FMF) is the most common hereditary inflammatory periodic disease, characterized by recurrent episodes of fever and abdominal pain, synovitis, and pleuritis. The aim of this study was to determine the frequency and distribution of Mediterranean fever (MEFV) gene mutations in Van province of Eastern Anatolia and to compare them with the other studies from various regions of Turkey. Therefore, we retrospectively evaluated MEFV gene mutations in 1058 pediatric patients with suspected FMF. The MEFV gene mutations were investigated using Sanger sequencing and the multiplex minisequencing technique. We identified 37 different genotypes and 16 different mutations. The four most common mutations and allelic frequencies were M694V (36.50%), E148Q (32.77%), V726A (14.09%), and M694I (4.41%). M694V was the most common mutation, and the M694I frequency was found to be higher compared to studies from other regions of Turkey. In addition, we identified a novel missense mutation (R361T, c.1082G>C) in exon 3 of the MEFV gene in a 12-year-old boy, who had a typical FMF phenotype. In conclusion, this study evaluated the distribution of MEFV gene mutations in children with FMF as the first study conducted in Van province, Eastern Anatolia.

Genetic diversity of 15 autosomal short tandem repeats loci using the AmpFLSTR(®) Identifiler™ kit in a Bhil Tribe Population from Gujarat state, India.

MATERIALS AND METHODS: The genetic diversity and forensic parameters based on 15 autosomal short tandem repeats (STR) loci; D8S1179,D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317,D16S539, D2S1338, D19S433, vWA, TPOX, D18S51,D5S818, and FGA in AmpFLSTR® Identifiler™ kit from Applied Biosystems, Foster City, CA, USA were evaluated in saliva samples of 297 unrelated individuals from the Bhil Tribe population of Gujarat state, India to study genetic diversities and relatedness of this population with other national and international populations. RESULTS: Statistical analysis of the data revealed all loci were within Hardy-Weinberg Equilibrium expectations with the exception of the locus vWA (0.019) and locus D18S51 (0.016). The neighbour joining phylogeny tree and Principal Co-ordinate Analysis plot constructed based on Fst distances from autosomal STRs allele frequencies of the present study and other national as well as international populations show clustering of all the South Asian populations in one branch of the tree, while Middle Eastern and African populations cluster in a separate branch. CONCLUSION: Our findings reveal strong genetic affinities seen between the Indo-European (IE) speaking Bhil Tribe of Gujarat and Dravidian groups of South India.

NR3C1 polymorphisms in Brazilians of Caucasian, African, and Asian ancestry: glucocorticoid sensitivity and genotype association / Polimorfismos NR3C1 em brasileiros de ascendência caucasiana, africana e asiática: sensibilidade aos glicocorticoides e associação de genótipos

Objective : The Brazilian population has heterogeneous ethnicity. No previous study evaluated NR3C1 polymorphisms in a Brazilian healthy population. Materials and methods : We assessed NR3C1 polymorphisms in Brazilians of Caucasian, African and Asian ancestry (n = 380). In a subgroup (n = 40), we compared the genotypes to glucocorticoid (GC) sensitivity, which was previously evaluated by plasma (PF) and salivary (SF) cortisol after dexamethasone (DEX) suppression tests, GC receptor binding affinity (K d ), and DEX-50% inhibition (IC 50 ) of concanavalin-A-stimulated mononuclear cell proliferation. p.N363S (rs6195), p.ER22/23EK (rs6189-6190), and BclI (rs41423247) allelic discrimination was performed by Real-Time PCR (Polymerase Chain Reaction). Exons 3 to 9 and exon/intron boundaries were amplified by PCR and sequenced. Results : Genotypic frequencies (%) were: rs6195 (n = 380; AA:96.6/AG:3.14/GG:0.26), rs6189-6190 (n = 264; GG:99.6/GA:0.4), rs41423247 (n = 264; CC:57.9/CG:34.1/GG:8.0), rs6188 (n = 155; GG:69.6/GT:25.7/TT:4.7), rs258751 (n = 150; CC:88.0/CT:10.7/TT:1.3), rs6196 (n = 176; TT:77.2/TC:20.4/CC:2.4), rs67300719 (n = 137; CC:99.3/CT:0.7), and rs72542757 (n = 137; CC:99.3/CG:0.7). The rs67300719 and rs72542757 were found only in Asian descendants, in whom p.N363S and p.ER22/23EK were absent. The p.ER22/23EK was observed exclusively in Caucasian descendants. Hardy-Weinberg equilibrium was observed, except in the Asian for rs6188 and rs258751, and in the African for p.N363S. The K d , IC 50 , baseline and after DEX PF or SF did not differ between genotype groups. However, the mean DEX dose that suppressed PF or SF differed among the BclI genotypes (P = 0.03). DEX dose was higher in GG- (0.7 ± 0.2 mg) compared to GC- (0.47 ± 0.2 mg) and CC-carriers (0.47 ± 0.1 mg). Conclusion : The genotypic frequencies of NR3C1 polymorphisms in Brazilians are similar to worldwide populations. Additionally, the BclI polymorphism ...

Objetivo : Este estudo avalia polimorfismos (SNPs) do NR3C1 na população brasileira, que possui origem étnica heterogênea. Materiais e métodos : SNPs do NR3C1 foram avaliados em brasileiros de ancestralidade caucasiana, africana ou japonesa (n = 380). Em um subgrupo (n = 40), os genótipos foram comparados à sensibilidade aos glicocorticoides (GC), previamente avaliada por cortisol plasmático (PF) e salivar (SF) após supressão com dexametasona (DEX), ensaio de afinidade do receptor ao GC (K d ) e inibição por DEX de 50% da proliferação de mononucleares estimulada por concanavalina-A (IC 50 ). Discriminação alélica de p.N363S (rs6195), p.ER22/23EK (rs6189-6190) e BclI (rs41423247) foi realizada por PCR em tempo real. Éxons 3 a 9 e transições éxon/íntron foram amplificados e sequenciados. Resultados : Frequências genotípicas (%) foram: rs6195 (n = 380; AA:96,6/AG:3,14/GG:0,26), rs6189-6190 (n = 264; GG:99,6/GA:0,4), rs41423247 (n = 264; CC:57,9/CG:34,1/GG:8,0), rs6188 (n = 155; GG:69,6/GT:25,7/TT:4,7), rs258751 (n = 150; CC:88,0/CT:10,7/TT:1,3), rs6196 (n = 176; TT:77,2/TC:20,4/CC:2,4), rs67300719 (n = 137; CC:99,3/CT:0,7), e rs72542757 (n = 137; CC:99,3/CG:0,7). Enquanto rs67300719 e rs72542757 foram exclusivos dos nipodescendentes, p.N363S e p.ER22/23EK estavam ausentes nesses indivíduos. p.ER22/23EK foi exclusivo dos descendentes de caucasianos. Equilíbrio de Hardy-Weinberg foi observado, exceto nos nipodescendentes para rs6188 e rs258751 e nos afrodescendentes para p.N363S. K d , IC 50 , PF ou SF basal ou após DEX foram semelhantes entre os genótipos. Entretanto, a dose média de DEX que suprimiu PF ou SF diferiu entre os genótipos BclI (P = 0,03), sendo maior nos carreadores GG (0,7 ± 0,2 mg) comparada aos GC (0,47 ± 0,2 mg) e CC (0,47 ± 0,1 mg). Conclusão : As ...

Pharmacogenetic research in Kazakhstan.

INTRODUCTION: Pharmacogenomics is an emerging field of medicine that combines genetics and pharmacology. Pharmacogenomic research is relatively new in Kazahkstan, but, in recent years, significant progress has been made in this field. The National Scientific Laboratory for Biotechnology has launched several government-funded research projects focused on finding genetic markers that determine susceptibility to various drugs. Another goal of pharmacogenetic research in the laboratory is to find the pharmacogenomic markers that target cardiovascular diseases, accounting for allelic frequencies in selected genes in the Kazakh population. In addition, pharmacogenomic testing kits allow patients to choose the drug dosage. For example, the drug Warfarin has been developed within the framework of the "Technology Commercialization Project," funded jointly by the Ministry of Education and Science of the Republic of Kazakhstan and the World Bank. MATERIAL AND METHODS: The pharmacogenomic studies were conducted using the real-time PCR and direct DNA sequencing. DNA was isolated from venous blood or buccal cells, collected from patients. RESULTS: To date, we have identified the most promising areas of research in the field of pharmacogenomics in Kazakhstan. The allelic frequencies of a number of polymorphisms in the Kazakh population have been calculated (CYP2C9, CYP2C19, CYP3A4, VKORC1, CYP4F2, GGCX, CYP2D6, CYP1A2, NAT2, GSTP1, SLC47A1). A unique repository of DNA samples was established and is being replenished during the implementation of aforementioned projects. Development of the testing kit for individual selection of Warfarin dosage is nearing completion. A patent, named "Method of Selection Based Dose Warfarin Genotyping for the Kazakh Population" has been recently obtained. An application for another patent, titled "Express Method of Correction of Warfarin Dosing, Based on Real-time PCR" has received positive evaluation. The results of domestic pharmacogenomic studies will allow a more rational selection of drugs and their dosage regimens specific to the Kazakh population.

Allelic frequencies and statistical data obtained from 12 codis STR loci in an admixed population of the Brazilian Amazon.

The allelic frequencies of 12 short tandem repeat loci were obtained from a sample of 307 unrelated individuals living in Macapá, a city in the northern Amazon region, Brazil. These loci are the most commonly used in forensics and paternity testing. Based on the allele frequency obtained for the population of Macapá, we estimated an interethnic admixture for the three parental groups (European, Native American and African) of, respectively, 46%, 35% and 19%. Comparing these allele frequencies with those of other Brazilian populations and of the Iberian Peninsula population, no significant distances were observed. The interpopulation genetic distances (F(ST) coefficients) to the present database ranged from F(ST) = 0.0016 between Macapá and Belém to F(ST) = 0.0036 between Macapá and the Iberian Peninsula.

Characteristics of Populations of the Russian Federation over the Panel of Fifteen Loci Used for DNA Identification and in Forensic Medical Examination.

Seventeen population groups within the Russian Federation were characterized for the first time using a panel of 15 genetic markers that are used for DNA identification and in forensic medical examinations. The degree of polymorphism and population diversity of microsatellite loci within the Power Plex system (Promega) in Russian populations; the distribution of alleles and genotypes within the populations of six cities and 11 ethnic groups of the Russian Federation; the levels of intra- and interpopulation genetic differentiation of population; genetic relations between populations; and the identification and forensic medical characteristics of the system of markers under study were determined. Significant differences were revealed between the Russian populations and the U.S. reference base that was used recently in the forensic medical examination of the RF. A database of the allelic frequencies of 15 microsatellite loci that are used for DNA identification and forensic medical examination was created; the database has the potential of becoming the reference for performing forensic medical examinations in Russia. The spatial organization of genetic diversity over the panel of the STR markers that are used for DNA identification was revealed. It represents the general regularities of geographical clusterization of human populations over various types of genetic markers. The necessity to take into account a population's genetic structure during forensic medical examinations and DNA identification of criminal suspects was substantiated.

Allelic frequencies and statistical data obtained from 12 codis STR loci in an admixed population of the Brazilian Amazon

The allelic frequencies of 12 short tandem repeat loci were obtained from a sample of 307 unrelated individuals living in Macapá, a city in the northern Amazon region, Brazil. These loci are the most commonly used in forensics and paternity testing. Based on the allele frequency obtained for the population of Macapá, we estimated an interethnic admixture for the three parental groups (European, Native American and African) of, respectively, 46 percent, 35 percent and 19 percent. Comparing these allele frequencies with those of other Brazilian populations and of the Iberian Peninsula population, no significant distances were observed. The interpopulation genetic distances (F ST coefficients) to the present database ranged from F ST = 0.0016 between Macapá and Belém to F ST = 0.0036 between Macapá and the Iberian Peninsula.

Frecuencias Alélicas de Beta-lactoglobulina en ganado criollo Limonero / Allelic Frequency of Beta-lactoglobulin in Limonero Creole Cattle

Con el objeto de caracterizar el gen de la beta-lactoglobulina (BLG) en la raza Criollo Limonero, se utilizó la técnica PCR-RFLP en 163 animales puros de la estación local Carrasquero (Carrasquero-estado Zulia), los genotipos fueron determinados a través de electroforesis en geles de agarosa. Las frecuencias obtenidas del locus de la BLG fueron A (0,22) y B (0,78) y las frecuencias genotípicas fueron AA (0,07 ); AB (0,29) y BB (0,64), la población estudiada se encuentra en equilibrio de Hardy-Weinberg (P<0,05), los resultados indican que la frecuencia alélica del alelo B fue más alta que la de A, siendo esto importante, ya que se han determinado los efectos de esta variante alélica de la BLG sobre la cantidad de grasa y proteínas en la leche, la selección a favor del alelo B en la población conllevará a una mejora en la calidad y rendimiento en la producción de queso, estos resultados representan un valioso aporte al conocimiento de esta raza y de su importancia, ya que, representa una alternativa para sistemas dirigidos a la producción de queso.

In order to characterize the beta-lactoglobulina gene (BLG) in the Limonero Creole cattle through PCR-RFLP technique, 163 purebreed animals were used from the Carrasquero local station (Carrasquero-Zulia State), genotypes were determined through gel electroforesis in agarosa. Gene and genotypic frequencies obtained were A (0.22) and B (0.78) and AA (0.07), AB (0.24) and BB (0.64) respectively, the population is in equilibrium of Hardy-Weinberg with (P<0.05), the results indicate that the alelic frequency of was more high B but that A, being this important one, since the effects of the variants of the BLG on the amount of fat and proteins in milk have been determined, the selection in favor of allele B in the population will entail to an improvement in the quality and yield in the cheese production, these results represent a valuable contribution the knowledge of this race and its importance, since, represents an alternative for systems directed to the cheese production.

Comparação entre métodos de estimação do coeficiente de endogamia com dados de frequências alélicas em uma população diplóide / Comparison among inbreeding coefficient estimation methods in a diploid population with two alleles

Neste trabalho, objetivou-se comparar três estimadores do coeficiente de endogamia, F, em uma população diplóide com dois alelos, utilizando-se dados de frequências alélicas em amostras de indíviduos, com diferentes tamanhos obtidas em populações simuladas, por meio do software SAS. Foi avaliado o estimador de F, obtido pela análise de variância de frequências alélicas, o estimador considerando o método dos momentos e o estimador pelo método da máxima verossimilhança. Os resultados encontrados para a média e variância os estimadores, a partir de 1000 estimativas de F, calculadas para cada tamanho de amostra, mostraram que os três estimadores são tendenciosos. Entretanto, de maneira geral, observou-se que o estimador considerando a análise de variância foi menos tendencioso e apresentou menor variância, quando o coeficiente de endogamia da população foi alto. Para tamanho de amostra superior a 50, os três estimadores tiveram comportamento semelhante, independente da frequência alélica e da endogamia da população.

The present work evaluated the properties of three estimators of the inbreeding coefficient, F, in a diploid population with two alleles, using data of gene frequencies in individuals from random samples obtained from populations simulated through the SAS. We evaluated the estimators of F obtained by variance analysis of allelic frequencies, obtained by moment method, and estimator obtained by maximum likelihood method. The analysis of the means and variances of the estimators, obtained from 1000 estimates of F, calculated for each sample size, demonstrated that the three estimators were biased. However, it was observed that the estimator obtained from univariate analysis was less biased and presented smaller variance, when the inbreeding coefficient in the population was elevated, while for populations with low inbreeding, the variance of the estimator obtained by the multivariate analysis was smaller.