The polymorphism of red cell uridine monophosphate kinase in two samples of the Italian population.

Red cell uridine monophosphate kinase polymorphism has been studied on a total of 915 individuals from two different areas of Italy (Milan and Rome). The two groups of about the same size show very similar gene frequencies. The UMPK2 allele in the pooled sample has a frequency of 2.8% which is significantly lower than those observed in the two other Caucasian populations so far examined.     

Population genetics of glyoxalase I (GLO) polymorphism in India

Phenotype and gene frequency data are presented on the glyoxalase I (GLO) polymorphism in seven endogamous caste groups: Jat Sikh, Ramdasia Sikh, Ramgarhia Sikh, Khatri, Brahmin and Bania of Patiala district, and Jat Sikh of Faridkot district of Punjab, North-West India. Apparently, there is considerable heterogeneity in the frequency distribution of the GLO1 gene that varies from 0.168 in Bania to 0.287 in Brahmin. However, these differences are not statistically significant, and the overall GLO1 frequency in Punjab is well within the North Indian range.     

Prevalence of estrogen receptor alpha PvuII and XbaI polymorphism in population of Polish postmenopausal women

Numerous data indicate that polymorphism of estrogen receptor alpha (ERalpha) may predict lipid levels, lipid response to hormone replacement therapy (HRT), myocardial infarction risk, bone fracture risk, bone mineral density (BMD) and changes in BMD over time. In this study we aimed to evaluate distribution of ERalpha PvuII and XbaI genotypes in population of Polish postmenopausal women qualified to different protocols of HRT. Subject of the study were 64 consecutive postmenopausal women aged from 45 to 65 years (mean 56.6) assigned to HRT. ERalpha PvuII and XbaI polymorphism was determined by PCR-restriction fragment length polymorphism (RFLP). The absence of PvuII and XbaI restriction sites were indicated by "P" and "X" and presence by "p" and "x", respectively. PvuII genotype was distributed as follows: PP 17.2% (n=11), Pp 50% (n=32), pp 32.83% (n=21). Frequency of XbaI genotype was: XX 6.25% (n=4), Xx 34.4% (n=22), xx 59.4% (n=38). Four haplotypes with following frequencies were recognized: PX 17.3%, px 47.4%, Px 24.4% and pX 10.9%. Prevalence of estrogen receptor alpha PvuII and XbaI polymorphisms in Polish women is similar to previously studied population.     

Contribution of STAT4 gene single-nucleotide polymorphism to systemic lupus erythematosus in the Polish population

The STAT4 has been found to be a susceptible gene in the development of systemic lupus erythematosus (SLE) in various populations. There are evident population differences in the context of clinical manifestations of SLE, therefore we investigated the prevalence of the STAT4 G > C (rs7582694) polymorphism in patients with SLE (n = 253) and controls (n = 521) in a sample of the Polish population. We found that patients with the STAT4 C/G and CC genotypes exhibited a 1.583-fold increased risk of SLE incidence (95 % CI = 1.168-2.145, p = 0.003), with OR for the C/C versus C/G and G/G genotypes was 1.967 (95 % CI = 1.152-3.358, p = 0.0119). The OR for the STAT4 C allele frequency showed a 1.539-fold increased risk of SLE (95 % CI = 1.209-1.959, p = 0.0004). We also observed an increased frequency of STAT4 C/C and C/G genotypes in SLE patients with renal symptoms OR = 2.259 (1.365-3.738, p = 0.0014), (p (corr) = 0.0238) and in SLE patients with neurologic manifestations OR = 2.867 (1.467-5.604, p = 0.0016), (p (corr) = 0.0272). Moreover, we found a contribution of STAT4 C/C and C/G genotypes to the presence of the anti-snRNP Ab OR = 3.237 (1.667-6.288, p = 0.0003), (p (corr) = 0.0051) and the presence of the anti-Scl-70 Ab OR = 2.665 (1.380-5.147, p = 0.0028), (p (corr) = 0.0476). Our studies confirmed an association of the STAT4 C (rs7582694) variant with the development of SLE and occurrence of some clinical manifestations of the disease.     

No association between GLO I and Hp in the Austrian population

In contrast to the data published by Payne and Huntsman in 1982, no association between GLO I and Hp phenotypes could be found in a sample of 973 unrelated Austrians.     

Prion octapeptide-repeat polymorphism in Polish Black-and-White cattle

The study was carried out in a Polish Black-and-White cattle population, represented by 167 AI sires, 200 young tested bulls, 190 bull-dams, and 606 randomly chosen cows from commercial herds. The fragment of the bovine prion protein gene (PRNP) coding the octapeptide-repeat sequence, was identified by PCR analysis. Two different gene variants of 349 bp and 373 bp in size, produced three genotypes: PRNP 6/6, PRNP 6/5 and PRNP 5/5, respectively. Allele frequency in all examined populations, on average 0.894 for PRNP 6 and 0.106 for PRNP 5, shows a significant difference between the group of cows from commercial herds, characterised by high frequency of PRNP 5 (q = 0.137) in comparison to AI sires (q = 0.077), young tested bulls (q = 0.052) and bull-dams (q = 0.084). Moreover, both analysed female groups of bull-dams and cows from commercial herds are distinguished by the presence of PRNP 5/5 homozygous animals, which were not recorded in the AI sires and young tested bulls, and had never been recognised in earlier examined Holstein-Friesian populations. Analysis of the genetic equilibrium indicates a very high conformity between observed and expected number of animals in the separate PRNP genotype groups. However, some tendency of difference is observed in highly selected cows, qualified as bull-dams on the basis of very high level of milk performance traits.     

Rapid detection of glyoxalase I (GLO) on cellulose acetate gel and the distribution of GLO variants in a Dutch population

Summary A rapid electrophoretic procedure is described for detecting the human red cell glyoxalase I variants (GLO 1, GLO 2-1, and GLO 2) on cellulose acetate gel (cellogel) on which the sites of enzymed activity are visualized as purple bands against white background. The frequency of GLO ¹ gene in a Dutch population living in and around Leiden was found to be 0.4544.     

Linkage of GLO with HLA in a sample of the Spanish population

Summary GLO allele frequencies are studied in 100 unrelated normal Spaniards. GLO-S shows a frequency similar to that found in Caucasoids. Weak linkage disequilibria between some HLA-B and some HLA-DR antigens are described. DR3 and DR4 are GLO-F associated both in normal and insulin dependent diabetic Spaniards. GLO/HLA-DR loci distance is about 6cM according to our family studies; females show a higher GLO/HLA-DR recombination rate than males in our sample. NO GLO heterozygous excess or nul alleles are found.     

Genotypes of Helicobacter pylori in Polish population

Here we have studied the genetic diversity of Helicobacter pylori strains recovered from 64 individual patients, 5 family members and 13 unsuccessfully treated patients. The recovered bacteria were finger-printed by the PCR-RFLP and RAPD methods and virulence associated loci (cagPAI, vacA) were PCR studied. Unique differentiation of every independently isolated strain from not-related persons was possible by RAPD technique. In PCR-RFLP technique several profile groups (7 and 15) for particular endonuclease tested were found. Eleven patients carried strains of the same gene profile (PCR-RFLP) and the same overall genotype (RAPD) before and after therapy. In the family studies, essentially the same strain was found in different relatives in three cases, and different strains were found in the other two cases. Island of cagPAI was present in 79% of all strains tested, half and one-fifth of all strains tested presented, s1am2 and s1m1 alleles of vacA gene, respectively. Independently from identity or diversity of pre- and post-treatment strains and strains recovered from the family members we have been observed identical cagPAI/vacA genotypes. These results suggest that H. pylori infections in Poland can be mixed, although just one strain may often predominate, and that inter-family transmission may be significant even in this high risk society. The genetic feature of virulence-associated loci are similar to those seen elsewhere in Europe, although strains that carry the cagPAI and the potentially more toxigenic alleles of the vacA gene are more common. RAPD technique is proven as most differentiating, however PCR-RFLP allows for easy recognition of mixed infection with two or more different strains. Molecular typing study in case of children therapy may allow reduce rate of relapses by reduction of possible transmission from family source.     

XRCC1 Arg399Gln gene polymorphism and the risk of systemic lupus erythematosus in the Polish population

It has been shown that DNA repair is reduced in patients with systemic lupus erythematosus (SLE) and that the X-ray repair cross-complementing (XRCC1) Arg399Gln (rs25487) polymorphism may contribute to DNA repair. We evaluated the frequency of the XRCC1 Arg399Gln substitution in patients with SLE (n=265) and controls (n=360) in a sample of the Polish population. The odds ratio (OR) for SLE patients with the Gln/Gln versus Gln/Arg or Arg/Arg genotypes was 1.553 (95% confidence interval [CI]=0.9573-2.520; p=0.0729). OR for the Gln/Gln or Gln/Arg versus Arg/Arg genotype was 1.551 (95% CI=1.122-2.144, p=0.0077). The OR for the 399 Gln allele in patients with SLE was 1.406 (95% CI=1.111-1.779, p=0.0045). There was also a statistically significant p-value of the χ(2) test for the trend observed in the XRCC1 Arg399Gln polymorphism (ptrend=0.0048). We also found a significant contribution of the Gln/Gln or Arg/Gln versus Arg/Arg genotype to the presence of either the malar rash or photosensitivity manifestations of SLE OR=2.241 (1.328-3.781, p=0.0023, pcorr=0.0414). Moreover, the meta-analysis of Taiwanese Han Chinese, Brazilian, and Polish populations showed that the Gln/Gln or Gln/Arg genotype and Gln allele were associated with SLE incidence. OR for the Gln/Gln or Gln/Arg versus Arg/Arg genotype was 1.440 (95% CI=1.15-1.80, p=0.0019) and OR for the Gln allele was 1.27 (95% CI=1.08-1.51, p=0.0051). Our studies may confirm that the XRCC1 Arg399Gln polymorphism may increase the risk of incidence of SLE and the occurrence of some SLE manifestations.     

Glyoxalase I 'null' allele in the Polish population

A silent allele of red-cell glyoxalase I was found in three generations of a Polish family.     

Pedigree analysis in the Polish Red cattle population

The objective of this study was to describe the population structure and inbreeding level of the population of Polish Red Cattle (PRC). The structure of the breed was analysed in the context of the existing genetic resources conservation programme. The level of genetic diversity and the effective population size were also determined. The analyses were carried out based on pedigree records of 9 170 animals. Data and pedigree information were collected during the time period of 1950–2014. Records were collected by the National Research Institute of Animal Production in Balice, Poland. The population structure was analysed using the CFC programme. All the animals were grouped into five classes according to their inbreeding coefficient: the first class included non-inbred animals; and the next classes included inbred animals 0% < F ≤ 5%, 5% < F ≤ 10%, 10% < F ≤ 20%, 20% < F ≤ 30% or F > 30%. The average inbreeding in PRC population was 4% and there were 2 182 (23.8%) inbred animals. The study also included the determination of ancestral paths for the PRC population. The longest ancestral path (LAP) consisted of 12 generations (three animals) while only 229 animals (2.53%) had an LAP comprising at least 10 generations. Therefore, a need exists, particularly in PRC as a small local breed, to manage selection and mating decisions to control future coancestry and inbreeding, which would lead to better handling of the effective population size. The study results showed the possibility of disrupting the balance of the structure of a small population like PRC. Hence, endangered populations need to be monitored on a continuous basis.     

On the population genetics of the red cell glyoxalase I (GLO)

Summary The GLO phenotype distribution was studied in the population from the Rostock area (n=233). The gene frequencies of GLO alleles were estimated to be GLO¹=0.4249, GLO²=0.5751. The electrophoretic separation was achieved on horizontal starch gel.     

Glycolate oxidase isozymes are coordinately controlled by GLO1 and GLO4 in rice

Glycolate oxidase (GLO) is a key enzyme in photorespiratory metabolism. Four putative GLO genes were identified in the rice genome, but how each gene member contributes to GLO activities, particularly to its isozyme profile, is not well understood. In this study, we analyzed how each gene plays a role in isozyme formation and enzymatic activities in both yeast cells and rice tissues. Five GLO isozymes were detected in rice leaves. GLO1 and GLO4 are predominately expressed in rice leaves, while GLO3 and GLO5 are mainly expressed in the root. Enzymatic assays showed that all yeast-expressed GLO members except GLO5 have enzymatic activities. Further analyses suggested that GLO1, GLO3 and GLO4 interacted with each other, but no interactions were observed for GLO5. GLO1/GLO4 co-expressed in yeast exhibited the same isozyme pattern as that from rice leaves. When either GLO1 or GLO4 was silenced, expressions of both genes were simultaneously suppressed and most of the GLO activities were lost, and consistent with this observation, little GLO isozyme protein was detected in the silenced plants. In contrast, no observable effect was detected when GLO3 was suppressed. Comparative analyses between the GLO isoforms expressed in yeast and the isozymes from rice leaves indicated that two of the five isozymes are homo-oligomers composed of either GLO1 or GLO4, and the other three are hetero-oligomers composed of both GLO1 and GLO4. Our current data suggest that GLO isozymes are coordinately controlled by GLO1 and GLO4 in rice, and the existence of GLO isozymes and GLO molecular and compositional complexities implicate potential novel roles for GLO in plants.     

Cribra orbitalia in two temporally disjunct population samples from the Dakhleh Oasis, Egypt

Cribra orbitalia (CO), an osseous sign of anemic stress, occurs in 67% (n = 296) of the pre-Roman (n = 153) and Roman (n = 143) period crania from the Dakhleh Oasis, Egypt. CO is primarily a childhood condition in these samples, and its prevalence is significantly higher in virtually all cohorts in the pre-Roman group, including among females, who display higher rates of active lesions. This temporal trend suggests that the underlying causative factors (i.e., synergism between disease and nutrition) were less pervasive in the Roman period. In both population samples, anemic stress develops in some perinates prior to the expected minimum age for the development of iron deficiency anemia. This suggests additional causes of anemic stress in the Dakhleh population. A strong candidate is folic acid deficiency and its concomitant, megaloblastic anemia, which results from weaning of infants on goat's milk, a known practice in ancient Egypt. The putative incorporation of other food items in the weanling diet, particularly honey, a confirmed source of C. botulinum, represents yet another retrospective data source to help understand the epidemiological profile of cribra orbitalia in this population. Comparative data from other Egyptian populations, though limited, show similar patterns, however, they display a lower prevalence than the data from Dakhleh.     

Hidden population size estimation and diagnostics using two respondent-driven samples with applications in Armenia

Estimating the size of hidden populations is essential to understand the magnitude of social and healthcare needs, risk behaviors, and disease burden. However, due to the hidden nature of these populations, they are difficult to survey, and there are no gold standard size estimation methods. Many different methods and variations exist, and diagnostic tools are needed to help researchers assess method-specific assumptions as well as compare between methods. Further, because many necessary mathematical assumptions are unrealistic for real survey implementation, assessment of how robust methods are to deviations from the stated assumptions is essential. We describe diagnostics and assess the performance of a new population size estimation method, capture–recapture with successive sampling population size estimation (CR-SS-PSE), which we apply to data from 3 years of studies from three cities and three hidden populations in Armenia. CR-SS-PSE relies on data from two sequential respondent-driven sampling surveys and extends the successive sampling population size estimation (SS-PSE) framework by using the number of individuals in the overlap between the two surveys and a model for the successive sampling process to estimate population size. We demonstrate that CR-SS-PSE is more robust to violations of successive sampling assumptions than SS-PSE. Further, we compare the CR-SS-PSE estimates to population size estimations using other common methods, including unique object and service multipliers, wisdom of the crowd, and two-source capture–recapture to illustrate volatility across estimation methods.     

DNA polymorphism in population genetics

In the review, the literature evidence on DNA polymorphism obtained in the last 10-15 years using various molecular-genetic methods is summarized. All main types of DNA variation are considered but attention is focused on those extensively used in population genetics. The areas of using DNA markers are outlined and the limitations of their potential in analyzing genetic processes in populations are discussed. Particular emphasis is placed on the relationship between the earlier developed biochemical genetics based on protein polymorphism analysis and modern molecular population genetics based on DNA polymorphism. The possible role of selection in maintaining DNA variation is considered.     

Risk of malignant neoplasms among Polish population in 1986

An analysis of the mortality for malignant tumors in Poland in 1986 is provided. The most frequent neoplasms noted in Poland were in 1986: in men cancer of the lungs (33.5% of all malignancies), cancer of the stomach (13.4%), prostate (4.8%), and pancreas (4.2%). In women the most frequent were: breast cancer (13.1%), cancer of the stomach (9.6%), lungs (7.8%), and cervix (6.7%). In 1986, significant difference in mortality rate was seen between men and women (prevalence of death in men) and between urban and rural areas (prevalence in urban areas). Moreover, persisting higher mortality rate for malignancies was noted in the western and central regions in comparison to eastern Poland. Mortality rate for malignancies in both men and women is higher in Poland than the average mortality rate in Europe.     

The estimation of the fitness function from two samples taken from a population

The fitness of animals subjected to natural selection can be defined as the probability of surviving selection for a given interval of time, or some convenient multiple of this probability. If the fitness of animals is related to some quantitative variable X (such as size) then this relationship is expressed mathematically in the fitness function w(x) and this function can be estimated by comparing the distribution of X in samples taken before and after selection. In this note five methods for estimating the fitness function on the basis of samples from a large population are discussed. They are compared on three previously published sets of data and as a result estimation according to weighted multiple regression is recommended.