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Journal Article 2009; 30(4): 525-529 PubMed PMID: 20010486 Citation  Keywords:  Animals, Base Sequence, Female, Molecular Sequence Data, Osteopontin:genetics, Ovary:physiology, Oviducts:physiology, Polymerase Chain Reaction, Polymorphism, Restriction Fragment Length, Promoter Regions, Genetic:genetics, Reproduction:genetics, Reverse .   

OBJECTIVES: The aim of the present study was to find a possible polymorphism in the promoter region of the osteopontin (OPN) gene, as a potential mutation region, connected with the transcription factor-binding sites or regulatory sequences and to estimate the expression of this gene in ovaries and oviduct of sows.

MATERIAL AND METHODS: Sixty wbp x pbz sows after the first mating were slaughtered and tissues samples of the ovaries and oviduct were taken. Primer pairs for PCR analysis were designed on the basis of swine osteopontin 5' end sequence driven from GenBank. This study's amplified DNA fragment, spanning 274 bp of the promoter region, was chosen because of its contents of tree specific sites: type II collagen silence sequence (CACCTCC) at -682 (from the transcription initiation site), glucocortIcoid response site (TGTCCT) at -658 and CAAT box -592. This DNA fragment was subjected to a MSSCP analysis.

RESULTS: A different MSSCP pattern was shown which indicates that mutation is located in this region. The samples of different conformers were sequenced and the A --> G transitions was identified in two positions -617 and -608. Restriction analysis of the DNA was performed, but unfortunately none of the known restriction enzymes recognized the novel SNPs, which is why the specific primer pairs characteristic for nucleotide A or for nucleotide G were chosen. In the second stage of the presented study the total RNA was extracted from the tissues of the ovaries and oviduct and the complementary DNA (cDNA) was synthesized.

CONCLUSION: The real-time PCR analysis to determined the expression dynamics of the OPN gene in pig tissues was performed....

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Journal Article 2009; 30(3): 343-351 PubMed PMID: 19855357 Citation  Keywords:  Adult, Age of Onset, Analysis of Variance, Body Height:genetics, Body Mass Index, Chi-Square Distribution, Female, Genetic Predisposition to Disease, Genotype, Haplotypes:genetics, Humans, Male, Middle Aged, Polymorphism, Single Nucleotide:genetics, Psych.   

OBJECTIVES: The 102T/C single nucleotide polymorphism (SNP) in the 5-hydroxytryptamine receptor 2A (HTR2A) gene has been reported to be associated with schizophrenia. However, SNPs of the HTR2A gene other than the 102T/C have attracted only limited studies in relation to schizophrenia, and also on the whole SNPs of the HTR2A gene have been little studied in relation to clinical parameters in patients. Therefore, the aim of this study was to evaluate the impact of main functionally characterized SNPs of the HTR2A gene on both the schizophrenia and clinical parameters.

METHODS: Ninety-four patients with schizophrenia and 57 control subjects were genotyped for the -1438A/G, -783A/G, 102T/C and His452Tyr SNPs of the HTR2A gene. The four SNPs were then investigated in relation to the schizophrenia and clinical parameters.

RESULTS: No differences were found in genotype-, allele- or haplotype frequencies between schizophrenia patients and control subjects. However, the 452Tyr variant of the His452Tyr polymorphism occurred more often in patients with a family history of schizophrenia compared with patients without heredity (p=0.028). The 452Tyr variant was also more common in female patients with paranoid schizophrenia than in those with non-paranoid schizophrenia (p=0.018). Moreover, the male patients carrying the A/A or T/T genotypes of the -1438A/G and 102T/C polymorphisms were shorter than those carrying the G/A or C/T genotypes (p=0.007; p=0.006).

CONCLUSION: The present findings bring further support to the view that the -1438A/G, 102T/C and His452Tyr polymorphisms of the HTR2A gene are connected with a constitutive cellular change that causes susceptibility to schizophrenia....

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Journal Article 2009; 30(2): 221-226 PubMed PMID: 19675522 Citation  Keywords:  5' Untranslated Regions, Animals, Female, Gene Expression, Genotype, Mutation, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Prolactin:blood, Reproduction:genetics, Sequence Analysis, DNA, Swine:genetics, Thyrotropin-Releasing Hormone:metabo.   

OBJECTIVES: The recent genetics and molecular biology progress seems to be a fascinating challenge for the interdisciplinary studies on the effects of genetic changes in gene structure that causes the modification of physiological functions of many important proteins including hormones. Pig prolactin is one of the interesting hormones for this study.

AIM OF THE STUDY: The aim of the study was to analyze the mutation in 5'UTR region of the pig prolactin (PRL) gene and to evaluate the effect of this polymorphism on changes in plasma prolactin concentration.

RESULTS: It was found that only two individual groups of animals differed by the genotype in examined PRL gene locus - homozygote C/C and heterozygote C/T. PRL plasma concentration was 38.4 ng/ml (for C/T animals) or 42.7 ng/ml (for C/C animals). Animals with C/C genotyped exhibited a tendency to elevate PRL concentration as compared to the C/T group (p< 0.07).

CONCLUSIONS: This research combines the genetic, molecular and, in vivo, physiological study which allows focus on the possible relationship between the gene polymorphism and physiological status of animal....

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Journal Article 2008; 29(6): 981-989 PubMed PMID: 19112400 Citation  Keywords:  Amino Acid Substitution:genetics, Animals, Cattle:genetics, Female, Gene Expression Regulation:genetics, Haplotypes, Insulin-Like Growth Factor I:genetics, Liver:metabolism, Male, Polymorphism, Single Nucleotide:genetics, Receptors, Somatotropin:genetics,.   

BACKGROUND: Polymorphisms in the bovine ghr and igf1 genes. Ghr and igf1 genes have been associated with milk and meat production of cattle. However, the molecular and physiological mechanisms underlying such associations are unknown. The objective of this study was to examine the effects of polymorphisms in 5'-regions of the bovine ghr and igf1 genes on the igf1 gene expression in the liver and on the level of IGF1 in blood of Polish Holstein-Friesian cattle.

METHODS: Individual and combined effects of single nucleotide polymorphisms (SNPs) in the 5'noncoding regions of the bovine igf1 and ghr genes on the IGF1 level in blood and igf1 gene expression in liver were examined. One SNP in the igf1 gene and four SNPs in the ghr gene were analyzed. IGF1 level in blood was measured by radioimmunoassay (RIA) in 211 heifers and bulls of Polish Holstein-Friesian cattle (of Black-and-White type). The igf1 gene expression was measured in livers of bulls carrying different igf1 and ghr genotypes (from three to nine animals per genotype) using real-time reverse transcription-PCR methods with the gapdh gene as a reference.

RESULTS: We showed that C/T transition in the promoter region of the igf1 gene influences the gene expression; relative igf1 expression was higher for animals with the CC genotype than for those with the TT and CT genotypes. TESS analysis showed that C/T transition in the igf1 gene co-localizes with the NF1 transcription factor binding site. Also, the ghr genotype appeared to significantly influence the igf1 gene expression in the liver, and we found the highest expression for the genotypes: RFLP-AluI (AT), RFLP-Fnu4HI(CC), and RFLP-NsiI(GA), and for the combined ghr genotype: AluI(AT)/ Fnu4HI(CC)/NsiI(GA). We discovered a significant association between the igf1 genotype and the IGF1 blood level. The highest IGF1 content in blood serum was found in CC genotype animals (1024 ng/ml) vs 698 ng/m and 859 ng/min in the TT and CT igf1 genotypes, respectively. Moreover, we noticed significant differences between ghr genotypes. The highest blood levels of IGF1 were for the animals carrying the ghr genotypes: RFLP-AluI(AA), RFLP-Fnu4HI(CC), and RFLP-NsiI(AG). Ghr haplotypes also significantly affected the IGF1 blood level. Animals of the combined ghr genotypes AluI(AA)/AccI(CC)/Fnu4HI(CC)/NsiI(AG) and AluI(AA)/AccI(CT)/Fnu4HI (CC)/ NsiI(AG) had a higher IGF1 concentration in blood than other genotype carriers.

CONCLUSIONS: The present results indicate that the effects of polymorphism in the igf1 and ghr genes on cattle milk or meat production traits could be at least partially mediated through their effects on the igf1 gene expression in the liver and the IGF1 level in blood....

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Journal Article 2008; 29(5): 658-662 PubMed PMID: 18987609 Citation  Keywords:  Aged, Chromium:blood, Chromosome Breakage:drug effects, DNA Repair:genetics, DNA-Binding Proteins:drug effects, Humans, Male, Metallurgy, Middle Aged, Occupational Exposure:adverse effects, Polymorphism, Genetic:drug effects,.   

OBJECTIVES: Welders, chronically exposed to hexavalent chromium, may exhibit disturbances in chromosomal integrity. Our study investigates chromosomal damage related to chromium exposure, considering the role of polymorphisms in relevant DNA repair genes.

METHODS: 39 male welders exposed to chromium for 10.2+/-1.67 years and 31 male controls were assayed for structural chromosomal aberrations (conventional cytogenetic analysis). DNA repair gene polymorphisms were determined by Real-Time allelic discrimination assay.

RESULTS: Total chromosomal aberrations were moderately, but statistically not significant, higher in exposed individuals (1.96%) than in controls (1.55%). Chromosomal type breaks were almost two-fold higher in exposed than in control individuals. The highest frequency of total chromosomal aberrations was recorded in individuals with homozygous variant Gln/Gln cariers (2.14%) in XRCC1* Arg-399Gln and the lowest in those with the wild-type Arg/Arg cariers (1.33%). Polymorphisms in XRCC3 gene did not modulate the frequencies of CAs, CTAs and CSAs.

CONCLUSIONS: Understanding the effects of chromium on chromosomal integrity in relation to individual susceptibility may be a basis for preventive measures in working process....

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Journal Article 2008; 29(5): 653-657 PubMed PMID: 18987576 Citation  Keywords:  Adenomatous Polyposis Coli:epidemiology, Adenomatous Polyposis Coli Protein:genetics, Chromatography, High Pressure Liquid, DNA:biosynthesis, Gene Deletion, Mutation, Polymorphism, Single-Stranded Conformational:genetics, Reverse Transcriptase Polymerase .   

OBJECTIVES: The adenomatous polyposis coli (APC) gene was analyzed for germline mutations in 113 familial adenomatous polyposis suspected families from all over Slovakia. Mutation screening was performed using single strand conformation polymorphism (SSCP) and DNA sequencing.

RESULTS: Mutations in the APC gene were found in 39 (34.5%) Slovak families and 25 different pathogenic mutations throughout the APC gene were identified. Of these, 12 mutations were deletion, one was insertion and 12 were base substitution.

CONCLUSIONS: Molecular diagnostics of Slovak FAP families revealed broad palette of mutations in crucial APC gene. The patients with identified APC gene mutations were assigned to a specific therapeutic FAP program....

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Journal Article 2008; 29(4): 493-499 PubMed PMID: 18766139 Citation  Keywords:  Adult, Blood Flow Velocity, Deoxyribonucleases, Type II Site-Specific:genetics, Female, Fetal Growth Retardation:genetics, Fetus:anatomy & histology, Genotype, Gestational Age, Humans, Laser-Doppler Flowmetry, Middle Cerebral Artery, Polymorphism, Genetic.   

OBJECTIVES: The intrauterine growth restriction (IUGR) frequently is a cause of fetal morbidity and mortality, and influences perinatal outcome. Several genes have been identified to explain aetiology of IUGR, beside others the gene coding for tumour necrosis factor alpha (TNF-alpha).

DESIGN: To investigate frequency of AlwI polymorphism of TNF-alpha gene and its correlation with TNF-alpha level in maternal serum, Doppler velocimetry and perinatal outcome in pregnancies suspected for IUGR.

SETTING: 42 pregnancies with IUGR and 50 matched healthy pregnant women were included in the study. Maternal venous blood samples were investigated in relationship to blood flow Doppler velocimetry in umbilical (UA) and middle cerebral (MCA) arteries. AlwI polymorphism was analysed using PCR/RFLP assays. TNF-alpha level was evaluated by immunoelectophoretic method.

RESULTS: A higher frequency of mutated -238A alleles (13.1% vs. 7.0%) and genotypes containing at least one mutated -238A allele (23.8% vs. 14.0%) were found in the IUGR group. The tendency to the higher TNF-alpha level in IUGR subgroups with the presence of at least one mutated A allele (258.9+/-231.3 vs. 174.1+/-145.6 pg/ml) was detected. No statistical differences were detected for PI values in UA and MCA arteries considering particular genotypes (GG vs. GA + AA) separately in IUGR group.

CONCLUSION: Increased UA vascular impedance and signs of brain sparing in MCA are related to IUGR and increased TNF-alpha level in maternal serum. AlwI polymorphism might play a role in IUGR aetiology and influence TNF-alpha expression in maternal serum, but was not related to Doppler velocimetry or with perinatal outcome....

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Journal Article 2007; 28(6): 815-821 PubMed PMID: 18063936 Citation  Keywords:  Adolescent, Adult, Analysis of Variance, Courtship, Female, Genetic Load, Humans, Love, Male, Personality:genetics, Polymorphism, Genetic, Receptor, Serotonin, 5-HT2A:genetics, Receptors, Dopamine D2:genetics, Receptors, Dopamine D4:genetics, Serotonin Pl.   

OBJECTIVES: It has been hypothesized that cerebral neurotransmitters such as dopamine and serotonin could play a role in human romantic bonding. However, no data on the genetic basis of human romantic love are currently available. To address this issue, we looked for associations between markers in neurotransmitter genes (the serotonin transporter gene, 5-HTT; the serotonin receptor 2A, 5HT2A; the dopamine D2 receptor gene, DRD2; and the dopamine D4 receptor gene, DRD4) and the six styles of love as conceptualized by Lee (Eros, Ludus, Storge, Pragma, Mania and Agape).

DESIGN: A total of 350 healthy young adults (165 males and 185 females, mean age: 24.1+/-3.9 years, range 18-32 years) filled the 24-item Love Attitudes Scale (LAS) and were genotyped for the following six polymorphic markers: the serotonin transporter-linked polymorphic region (5-HTTLPR), the 5HT2A T102C and C516T polymorphisms, the DRD2 TaqI A and TaqI B variants, and the DRD4 exon 3 VNTR polymorphism.

RESULTS: Statistical analysis revealed a significant association between the DRD2 TaqI A genotypes and "Eros" (a loving style characterized by a tendency to develop intense emotional experiences based on the physical attraction to the partner), as well as between the C516T 5HT2A polymorphism and "Mania" (a possessive and dependent romantic attachment, characterized by self-defeating emotions). These associations were present in both sexes and remained significant even after adjustment for potential confounders.

CONCLUSIONS: Our data provide the first evidence of a possible genetic loading on human loving styles....

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