Association of the A66G SNP in the MTRR gene with dental caries was studied in children with congenital anomalies of the maxillofacial region (CA of MFR), i.e., with congenital cleft lip with or without cleft palate (CL, CP, and CLP) and in children without congenital anomalies. Comparison of samples of children with CL, CP, and CLP and children without congenital anomalies revealed association of the A66G SNP of the MTRR gene with the considered anomalies, which made it impossible to establish probable association of this marker with caries (for the G/G genotype, an association with the increased risk for developing CA of MFR was observed: OR = 2.16; P = 0.046; 95% CI (1.00–4.67). In children without pathology, an association of the A66G SNP of the MTRR gene with early caries was revealed. In carriers of the A/A genotype among children with primary and mixed bite (N = 91) and the mean age of 6.51 ± 0.2 years, the risk for developing more severe form of caries was higher: OR = 4.91; P = 0.006; 95% CI (1.53–15.78); and among children with primary bite (N = 53) and the mean age of 4.71 ± 0.18 years, OR = 10.53; P = 0.024; 95% CI (1.19–485.29). In children with heterozygous A/G genotype, the resistance to more severe form of caries was observed. Therefore, the A66G SNP of the MTRR gene can be considered as a marker of early caries in children without congenital anomalies.
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.
Medical records and questionnaire data have been used to analyze morphophysiological (the birth weight and length) and genetic demographic (maternal age and marriage structure) traits in a sample of children with orofacial malformations (OMs, cleft palate and/or cleft lip) living in Krasnodar Territory, Russia. The sample of children with malformations (including premature infants) differs from the control group in lower birth weight and length and a lower proportion of children with morphophysiological values close to the population average ones, as well as a higher family exogamy level estimated on the basis of marriage structure in the parental and preceding generations. The risk of congenital cleft palate and/or cleft lip is considerably increased is the maternal age is older than 35 years or, to a lower degree, if it is younger than 20 years.
We studied 96 families of children (with birth data from 2000 to 2009 years) with congenital cleft lip, cleft palate or both (23%, 20and 57% correspondingly), increasing per cent of more hard pathology during last years was revealed. We observed more frequent birth of boys with orofacial clefts compared to girls. However, we observed no sex dependent differences in spectrum of diagnosis of the congenital orofacial clefts. The peculiarities of age distribution of mothers for children with cleft (N=999) born 1978-2009 wеre studied which revealed age group from 35 and higher with the highest respective risk, the group of young mothers was also detected as group of slightly increased risk. Therefore, factor of age ought to be included into medical genetic consultation program to reduce risk of clefts birth Krasnodarskii krai. for the first time, SNP C(-1204)G in promoter of gene FOXE1 was detected in two families with children with cleft palateв studied in Krasnodarskii krai, which was earlier identified mediating cleft palate.
Deformed wing virus (DWV) was first detected in the honey bee Apis mellifera by reverse transcriptase-polymerase chain reaction (RT-PCT) in the Moscow Region. Molecular phylogenetic analysis of the detected nucleotide sequence of the virus fragment VP2-VP1 of DWV demonstrated that the Russian virus sequence is united in the common cluster with all earlier revealed nucleotide sequences of DWV in the Genbank worldwide, which confirms the previous conclusions that this virus has recently distributed in the honey bee by Varroa destructor mite. It has been shown that the level of homology for all DWV nucleotide sequences is 98%, except for nucleoside sequence of 7D isolate from Turkey (96% homology), 96% homology with Kakugo virus and 84-86% homology with Varroa destructor virus 1; there is a preponderance of insignificant nucleotide substitutions, mainly transitions, which supports the evolutionary propinquity of 3 viruses.