scholarly journals Lung Cancer and Pulmonary Tuberculosis - A Comparative Population-Genetic Study

2009 ◽  
Vol 12 (2) ◽  
pp. 45-52 ◽  
Author(s):  
D Pešut ◽  
D Marinkovic

Lung Cancer and Pulmonary Tuberculosis - A Comparative Population-Genetic StudySeveral host genes proven to contribute to active tuberculosis (TB) and some of the localized major susceptibility loci, which influence lung cancer (LC) risk, are of considerable scientific interest, but do not confer high enough risk to be clinically relevant. Assuming that these diseases are genetically controlled, we hypothesized that retreat from optimal homozygosity level, as well as a changed variability among the patients, could be the populationgenetic parameter for prediction of illness. We performed a homozygous-recessive-characters (HRCs) test based analysis of the presence, distribution and individual combination of 23 selected genetically-controlled morpho-physiological traits in groups of LC patients, patients with pulmonary TB and healthy control subjects. This study showed: i) a statistically significant difference of the middle values of genetic homozygosity between both patients groups and the control group, ii) differences in the type of distribution, and iii) differences in the presence of certain individual combinations of such traits. The frequency of blood group O was significantly decreased in the TB group compared to the general population. According to their population-genetic structure, LC patients, TB patients and healthy controls represent three different groups. The retreat from optimal homozygosity level towards decrease that we found in both LC and TB patients support the influence of a dominant factor in development of these diseases.

2018 ◽  
Vol 25 (5) ◽  
pp. 104-110
Author(s):  
V. S. Uchaeva ◽  
Yu. A. Vasiliev ◽  
A. S. Gracheva ◽  
O. V. Gulenko ◽  
I. G. Udina

Aim. This research was designed to conduct an associative population genetic study for the consideration of the impact of SNP C677T of the gene MTHFR in the congenital maxillofacial developmental anomalies (CMDA): congenital cleft lip (CCL), congenital cleft palate (CCP), congenital cleft lip and palate (CCLP) in the Krasnodar territory. The aim of the study is to establish the associations between SNP C677T of the gene MTHFR and the development of congenital cleft lip and/ or palate.Materials and methods. In this research, the peculiarities of distribution of SNP C667T of the gene MTHFR in children with congenital cleft lip and/or palate (n=223) and their mothers (n=78) in comparison with the control group (n=124) were studied in the Krasnodar territory. The genetic demographic questionnaires were gathered for children with CMDA, the information about diagnosis was obtained from the medical records. The biological samples, including blood or scrapings of oral mucosa, were collected from children with the pathology and their mothers. The DNA was extracted from the samples by the standard method. The study of the peculiarities of distribution of alleles of SNP C677T of the gene MTHFR was performed by PCR-PFLP with endonuclease Hinf I or by tetra-primer ARMS-PCR method in children with CCL, CCP, CCLP, their mothers and the control group. Statistical processing of the obtained data was performed by the algorithms of the “Statistica” program.Results. While comparing the profiles of frequencies of SNP C677T in children with CCL, CCP and CCLP with the control group, there were identified no significant differences in the frequency of this SNP and no peculiarities of genotypes distribution. There was identified a significant difference in the peculiarities of genotypes distribution with the control group (G=19,5232, d.f.=1, p<0,001) as well as united genotypes (С/C и С/T) in accordance to T/T (G=10,4657, d.f.=1; p<0,001) and united genotypes (C/T и T/T) in accordance to C/C (G=15,1896, d.f.=1, p<0,001) for the mothers of children with CCL, CCP and CCLP.Conclusion. As a result of the study, we established the association of SNP C677T of the MTHFR gene with the development of congenital cleft lip and/or palate: mothers’ T/T genotype is associated with the increased risk of giving birth to a child with CCL, CCP and CCLP (in comparison with mothers with C/C+C/T genotype): odds ratio [OR]=16,63, 95% CI: 3,86-71,71; p=0,0003 and also for mothers with genotypes (C/T+T/T) in comparison with mothers with genotypes C/C: OR=3,22, CI:1,71-6,08; p=0,0002. The amount of risk is not significant in children with CMDA for T/T genotype. So it is possible to make a conclusion about the impact of C677T of the gene MTHFR in the development of CCL, CCP and CCLP only in mother’s genotype. 


Heredity ◽  
2006 ◽  
Vol 97 (1) ◽  
pp. 38-45 ◽  
Author(s):  
C Kerdelhué ◽  
E Magnoux ◽  
F Lieutier ◽  
A Roques ◽  
J Rousselet

Genetika ◽  
2015 ◽  
Vol 47 (2) ◽  
pp. 765-776
Author(s):  
Suzana Cvjeticanin

This population-genetic study compares morphophysiological and genetic variability in a group of homosexually oriented individuals from Serbia (N=96) with control group of heterosexual individuals (N=96) using a test of determination of homozygously recessive characteristics in humans (HRC-test). Results of our study revealed a statistically significant difference in the mean values of genetic homozygosity (control group 5.0+0.2 ; homosexuals 3.4 +0.1 HRCs, out of 20 observed characteristics) the differences in the distribution type, as well as in the variances of presence of specific combinations of such traits. These results suggest a complex polygenic difference between two observed systems. There is no difference in the degree of genetic homozygosity between the genders in each tested group of individuals. However, both homosexually oriented females and males have significantly lower mean values of HRCs compared to female and male heterosexuals.


2008 ◽  
Vol 136 (9-10) ◽  
pp. 519-523 ◽  
Author(s):  
Suzana Cvjeticanin ◽  
Dejan Nikolic ◽  
Ivana Petronic ◽  
Biljana Jekic ◽  
Tatjana Damnjanovic ◽  
...  

INTRODUCTION Our study of genetic homozygosity degree includes an analysis of the presence, distribution and individual combination of 15 selected genetically controlled morphophysiological traits in the sample of patients with spinal dysraphia (N=35) and in the control-healthy group (N=50). OBJECTIVE Assuming that spinal dysraphia is a genetically controlled disease, we made a hypothesis that an increased homozygosity level, as well as the changed variability among patients, could be a population-genetic parameter for the prediction of the illness. METHOD Taking into consideration our experience, as well as the experience of numerous scientists who studied the nature of the inheritance of monoand oligo-genically controlled qualitative traits, we applied a methodology to estimate the proportion of such homozygously recessive characters (HRC-test,). RESULTS This population-genetic study did not only show a statistically significant difference of the mean values of genetic homozygosity (SD 4.8?0.3; control 3.5?0.3), but of the differences in the type of distribution too, as well as the differences in the presence of certain individual combinations of such traits. CONCLUSION Due to the fact that those genes which control such qualitative recessive traits are distributed in different human chromosomes, being their visible markers, this could indicate that degrees of genetic homozygosity are ostensibly greater in a sample of patients with spinal dysraphia compared to the control group of individuals.


1997 ◽  
Vol 99 (4) ◽  
pp. 513-520 ◽  
Author(s):  
Dora Angelicheva ◽  
Francesc Calafell ◽  
Alexey Savov ◽  
Albena Jordanova ◽  
Annie Kufardjieva ◽  
...  

Author(s):  
Syoof Khowman Alramahy ◽  
Akram Hadi Hamza

This study was carried out to study of some immunological aspects among the pulmonary Tuberculosis patients infected with causative agent, Mycobacterium tuberculosis. A Total of 200 sputum samples were collected from patients attending the consultant Clinic for Chest and Respiratory disease center, Diwaniya. Control group (No=15) also included. According to acid fast stain of sputum, the patients were classified as positive (No=91,45.5%) and negative (No=109,54.5, Lowenstein Jensen medium used for the cultivation of samples, on which 70% of sputum samples where positive culture for this microorganism. The grown microorganism were identified as M. tuberculosis, based on positive A.F.B, Niacin producers ,negative for catlase at 68c. The mean IgG level was l184.053±76.684 mg/100 ml in tuberculosis group compared with 1016.533 ± 44.882 mg/100ml in control group, rendering the statistical difference significant. For IgA and IgM levels, they were at mean of 315.880±38.552 mg/100 ml and 119.527±8.464 mg/100 ml in control group compared with 396.358±38.776 mg/100 ml and 134.207±11.696 mg/100 ml in patients group respectively with significant difference


Coral Reefs ◽  
2021 ◽  
Author(s):  
Felipe Torquato ◽  
Jessica Bouwmeester ◽  
Pedro Range ◽  
Alyssa Marshell ◽  
Mark A. Priest ◽  
...  

AbstractCurrent seawater temperatures around the northeastern Arabian Peninsula resemble future global forecasts as temperatures > 35 °C are commonly observed in summer. To provide a more fundamental aim of understanding the structure of wild populations in extreme environmental conditions, we conducted a population genetic study of a widespread, regional endemic table coral species, Acropora downingi, across the northeastern Arabian Peninsula. A total of 63 samples were collected in the southern Arabian/Persian Gulf (Abu Dhabi and Qatar) and the Sea of Oman (northeastern Oman). Using RAD-seq techniques, we described the population structure of A. downingi across the study area. Pairwise G’st and distance-based analyses using neutral markers displayed two distinct genetic clusters: one represented by Arabian/Persian Gulf individuals, and the other by Sea of Oman individuals. Nevertheless, a model-based method applied to the genetic data suggested a panmictic population encompassing both seas. Hypotheses to explain the distinctiveness of phylogeographic subregions in the northeastern Arabian Peninsula rely on either (1) bottleneck events due to successive mass coral bleaching, (2) recent founder effect, (3) ecological speciation due to the large spatial gradients in physical conditions, or (4) the combination of seascape features, ocean circulation and larval traits. Neutral markers indicated a slightly structured population of A. downingi, which exclude the ecological speciation hypothesis. Future studies across a broader range of organisms are required to furnish evidence for existing hypotheses explaining a population structure observed in the study area. Though this is the most thermally tolerant acroporid species worldwide, A. downingi corals in the Arabian/Persian Gulf have undergone major mortality events over the past three decades. Therefore, the present genetic study has important implications for understanding patterns and processes of differentiation in this group, whose populations may be pushed to extinction as the Arabian/Persian Gulf warms.


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