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Five single nucleotide polymorphisms in leptin and leptin receptor genes were analysed for their possible impact on estimating breeding values for somatic cell count score (SCS) in milk, longevity and reproductive traits. Used were 309 active Polish Holstein-Friesian bulls. The LEP-C(-963)T,LEP-Y7F, LEP-R25C, LEP-A80V, and LEPR-T945M genotypes were identified using the PCRRFLP method. For linked leptin mutations, the additional haplotype analysis was performed. The results obtained suggest that three polymorphisms of bovine LEP gene may be associated with nonreturn rate in cows. The most significant effect was found for LEP-A80V. Moreover, the LEPRT945M mutation seemed to be related to the age at first insemination.
The aim was to investigate different genotypes and haplotypes of methylenetetrahydrofolate reductase (MTHFR-677, -1298) and plasma concentration of total homocysteine (tHcy) in Macedonian patients with occlusive artery disease (OAD) and deep venous thrombosis (DVT). Investigated groups consists of 80 healthy, 74 patients with OAD, and 63 patients with DVT. Plasma tHcy was measured with Microplate Enzyme Immunoassay. Identification of MTHFRgenotypes and haplotypes was done with CVD StripAssay. The probability level (P-value) was evaluated by the Student’s t-test. Plasma concentration of tHcy in CC and CTgenotypes of MTHFR C677T was significantly increased in patients with OAD and in patients with DVT. Plasma concentration of tHcy in ACgenotype of MTHFR A1298C was increased in patients with OAD and in patients with DVT. Plasma concentration of tHcy was significantly increased in AA genotype of patients with OAD, but not in patients with DVT. We found a significant increase of plasma tHcy in patients with OAD in comparison with healthy respondents for normal: heterozygote (CC:AC), heterozy-gote:normal (CT:AA), and heterozygote: heterozygote (CT:AC) haplotypes. Plasma concentration of tHcy in patients with DVT in comparison with healthy respondents was significantly increased for normal:normal (CC:AA), normal heterozygote (CC:AC), and heterozygote: heterozygote (CT:AC) haplotypes. We conclude that MTHFR C677T and MTHFR A1289C genotypes and haplotypes are connected with tHcy plasma levels in Macedonian patients with OAD and DVT.
We studied the phylogeography of Swertia tetraptera Maxim, which is an annual herbaceous plant endemic to the Qinghai-Tibetan Plateau (QTP), by sequencing one intergenic chloroplast spacer, trnL-trnF (773 bp). The sampling design included 35 populations and 399 individuals, and spanned the entire distribution of the species. Forty-four haplotypes were characterized, and one of them was widely distributed in all of the populations. The level of differentiation among the populations studied was relatively low (GST = 0.128). Estimates of NST -GST for populations of S. tetraptera indicated that no phylogeographical structure exists, which was supported by the distribution of haplotypes. The neutrality test, mismatch distribution and a ‘star-like’ genealogy all suggested that this species experienced population expansion. According to the number of rare haplotype and geological evidence, this study suggested that two potential refugia existed during the last glaciation: the first refugium was identified in a restricted semi-continuous area around the eastern margin of the plateau; the second refugium was located in the central of QTP. In fact, the findings of our study are somewhat similar as the third phylogeographical structure occurring in the QTP, that is, alpine plants have refugia not only in the edge area but also in the Plateau platform. However, the location of plateau edge and plateau platform refugia is very different among them due to the difference of species-specific characteristic such as distributional range and life history traits.
In this study we have analysed haplotypes of microsatellite markers of the CFTR gene: IVS8CA, IVS17BTA, IVS17BCA in 17 CF chromosomes of Polish origin and in 19 chromosomes of German origin bearing CF mutations other than ΔF508. In the Polish population, the G542X mutation is connected with haplotypes 16/17-28/32/38-13; in the German population, a more diverse haplotype association has been detected (23-33-13 and 16-32-13). The 1717-1G->A mutation is associated with the 15/16-7-13 haplotype in the Polish population, like the G551D mutation in Germany. The only analysed case of N1303K of Polish origin is connected with the 23-30-13 haplotype, like in the German population. One N1303K chromosome of an entirely different haplotype (16-29-17) turned out to be of Greek origin. These data suggest an ancient, Palaeolithic or Neolithic origin of these mutations in the territory of current Northern Europe.
Restriction fragment length polymorphisms (RFLPs) of mitochondrial (mt) DNA were used for investigating genetic differentiation in chamois (genus Rupicapra). Digestion of the mtDNAs of 58 individuals from 6 populations with a battery of 16 six-base cutting (restriction endonucleases yielded a total of 67 restriction sites. Based on the presence and absence of these restriction sites a total of 8 haplotypes could be defined. Six of them served for assessing genetic diversity within and among 4 local populations of R. rupicapra rupicapra. Estimates of nucleotide divergence among those haplotypes ranged from 0.05% to 0.25%. One chamois from the High Tatra (subspecies R. r. tatrica) was examined and showed the standard haplotype found in R. r. rupicapra. MtDNA in chamois from Catalunya, belonging to R. pyrenaica pyrenaica, was polymorphic for two haplotypes not found in any population of R. rupicapra. Mean nucleotide divergence among haplotypes found in R. rupicapra and R. pyrenaica was 0.56% (SD = 0.16%). Based on this value, an estimated divergence time of about 280 000 years suggests that the mtDNA lineages of R. rupicapra and R. pyrenaica separated prior to the Riss glacial in the later Pleistocene.
The goal of the study was to evaluate intragenic polymorphic sites in COL1A1 and COL1A2 loci. For COL1A1 the following intragenic markers were used: PCR-RFLP (COL1A1), G/A polymorphism in exon 45 of COL1A1 and C/T polymorphism in +88 position of COL1A1 non-translatable 3’ end. For COL1A2 PCR-VNTR was analyzed. 17 families were examined (6 of the "simplex" type and 11 of the "multiple" type). In 8 out of 11 "multiplex" families the segregation of the markers revealed correlation with OI, whereas the other 3 were non-informative. The method was not useful in "simplex" families.
Polymorphisms in mitochondrial DNA (mtDNA) were analyzed in 152 samples from the Polish population using restriction enzymes AvaI, BamHI, HaeII, HpaI and PstI. Additionally, each sample was classified into the appropriate haplogroup. When required, appropriate fragments were sequenced to establish the exact poly­morphic sites. We found one new morph for PstI and six new morphs for AvaII. Some detected morphs have previously been described as population specific morphs in different regions of the world. All polymorphisms were classified into 31 different haplotypes. 21 of them were detected in single individuals. The Polish population was compared with other populations from different regions. Moreover, we have ob­tained evidence for mutation hot spots in the mtDNA coding region. Our results indi­cate that AvaII morph and haplogroup composition of the Polish population is simi­lar to other European populations and has a distribution typical for this part of the world. However, statistically significant differences in haplogroup composition were found between the Polish population and Italian and Finnish populations.
Here we present the first attempt to use the BovineSNP50 Illumina Genotyping BeadChip for genome-wide screening of European bison Bison bonasus bonasus (EB), two subspecies of American bison: the plains bison Bison bison bison (PB), the wood bison Bison bison athabascae (WB) and seven cattle Bos taurus breeds. Our aims were to (1) reconstruct their evolutionary relationships, (2) detect any genetic signature of past bottlenecks and to quantify the consequences of bottlenecks on the genetic distances amongst bison subspecies and cattle, and (3) detect loci under positive or stabilizing selection. A Bayesian clustering procedure (STRUCTURE) detected ten genetically distinct clusters, with separation among all seven cattle breeds and European and American bison, but no separation between plain and wood bison. A linkage disequilibrium based program (LDNE) was used to estimate the effective population size (N e) for the cattle breeds; N e was generally low, relative to the census size of the breeds (cattle breeds: mean N e = 299.5, min N e = 18.1, max N e = 755.0). BOTTLENECK 1.2 detected signs of population bottlenecks in EB, PB and WB populations (sign test and standardized sign test: p = 0.0001). Evidence for loci under selection was found in cattle but not in bison. All extant wild populations of bison have shown to have survived severe bottlenecks, which has likely had large effects on genetic diversity within and differentiation among groups.
Recent data shows that range expansion of the greater mouse-eared bat Myotis myotis (Borkhausen, 1797) to Central Europe occurred mainly from the Iberian glacial refugium and in a lesser extent from South-eastern Europe. Here we present sequences of the mitochondrial control region obtained from 16 localities in the Czech Republic, Slovakia, and NW Romania. From the 97 sequences, 87 were identical with the haplotype H1, the most frequent one of haplogroup A occurring throughout Western Europe, and nine sequences (eight haplotypes) differed from H1 only by one substitution. This confirms decrease of genetic variability from south to north and colonisation of Central Europe from the Iberian Peninsula. However, we found a new haplotype, which is closely related to sequences from haplogroup D so far described in the nominative form of this species only from Greece and Bulgaria, which suggests two possible scenarios. First, colonization route from the Balkan refugium existed in this species as well, which is supported also by recently published analyses of historical DNA. Second, the Balkan haplotype entered Central Europe via interspecific hybridisation with M. blythii, a species, in which the haplogroup D is the most frequent in Europe and which is known to have colonised Europe from south-east.
Nucleotide sequences of the partial mitochondrial DNA (mtDNA) control region and flanking tRNA Phe gene (a total of 150bp) were determined in eight specimens of European grayling, Thymallus thymallus, representing five rivers in southwestern Poland. Two haplotypes, A and B, were identified which differed from each other by two nucleotide substitutions. Haplotype A was detected in fish from two rivers, the Zadrna and Bóbr, whereas haplotype B was detected in fish from three others, the Widna, Biala Gluchołazka and Metuja. The different phylogenetic position of the mtDNA haplotypes observed in samples from rivers which are in close proximity may suggest genetic structuring of grayling populations in the region, but further sampling is required to test this hypothesis.
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