K. Sharma, J. Korecký, E.D. Patrizio Soldateschi and P. Sedlák
Wild cherry (Prunus avium L.) S-genotyping is aimed to uncover and thus make it possible to select appropriate genotypes applicable in establishing commercial plantations and advanced forest tree breeding activities. The general and long-term aim is to increase genetic gain in economically valuable traits while maintaining sufficient genetic variability (represented by diverse S-alleles in population). We genotyped 123 accessions from wild cherry growing areas in the Czech Republic using polymerase chain reaction based length polymorphisms detection of S-RNase and SFB genes. The studied plant material revealed 18 different S-haplotypes, 54 S-genotypes corresponded to 25 defined incompatibility groups of cultivated sweet cherry. Eighteen unique S-genotypes were designated to group ‘0’ as a universal pollinator. Eleven new incompatibility groups were found out, of which four were cross-compatible with sweet cherry cultivars. The most frequent was a new incompatibility group S14S21 followed by the group S12S14. The haplotypes S14 (13%) and S1 (10%) were the most frequent whereas S20 was less frequent in the wild populations of cherry. The present study of S-genotyping in the wild cherry population reveals the genetic diversity structure of natural populations and hopefully will help define the breeding strategy including more accurate planning activities such as the optimal seed design of orchards.
Varroa mite, Varroa destructor, is the most destructive factor to western honey bee colonies worldwide. In 1904, Varroa was firstly recorded on honey bees, at the beginning it was hypothesized that Varroa is one species but recently this hypothesis has been considered to be incorrect. In 1983, Varroa mite was recorded in Egypt for first time. So far, a single study was done in Egypt to confirm Varroa species to be V. destructor and not Varroa jacobsoni as it was previously thought. Still the exact haplotype of Varroa in Egypt is unknown. This study is a step towards the identification of Varroa in Egypt. Here, morphological investigations were performed on Varroa specimens belong to northwest Egypt (El-Behera governorate). Three characteristics only showed significant differences among districts, namely body width, genital shield width, and genital shield length/genital shield width (ratio II), while the rest of characteristics did not present any significant differences. The correlations among the characteristics were very weak, except body length which correlated significantly (P<0.05) with body width and genital shield width by 0.52 and 0.42, in respect. The study presented additional confirmation that V. destructor is the current species infesting honey bee colonies in Egypt. Also, Varroa haplotype was identified to be the Korean one. A list of some morphological traits of Varroa mite was provided to enable further comparisons. A morphometry map for Varroa mites was also done using a geographical information system (GIS) to correlate between geographical locations and morphological characteristics. The morphometry map clearly classified studied districts, according to measured characteristics, into three classes as low, moderate and high. This study has a significant importance towards the fully understanding of Varroa populations in Egypt.
Barbara Faganel Kotnik, Janez Jazbec, Petra Bohanec Grabar, Cristina Rodriguez-Antona and Vita Dolzan
We investigated the clinical relevance of SLC 19A1 genetic variability for high dose methotrexate (HD-MTX) related toxicities in children and adolescents with acute lymphoblastic leukaemia (ALL) and non Hodgkin malignant lymphoma (NHML).
Patients and methods
Eighty-eight children and adolescents with ALL/NHML were investigated for the influence of SLC 19A1 single nucleotide polymorphisms (SNPs) and haplotypes on HD-MTX induced toxicities.
Patients with rs2838958 TT genotype had higher probability for mucositis development as compared to carriers of at least one rs2838958 C allele (OR 0.226 (0.071–0.725), p < 0.009). Haplotype TGTTCCG (H4) statistically significantly reduced the risk for the occurrence of adverse events during treatment with HD-MTX (OR 0.143 (0.023–0.852), p = 0.030).
SLC 19A1 SNP and haplotype analysis could provide additional information in a personalized HD-MTX therapy for children with ALL/NHML in order to achieve better treatment outcome. However further studies are needed to validate the results.
The moss Drepanocladus trifarius (F. Weber & D. Mohr) Broth. ex Paris was used as a model species for a first evaluation of whether male and female haplotype patterns based on a combination of the nuclear molecular markers ITS and gpd, and the chloroplast rpl16 are congruent or not. In 23 female and 23 male shoots from specimens sampled in Northern and Central Europe, sex was determined either by the presence of sexual branches or by a recently developed molecular marker. Analysis of molecular variance (AMOVA) showed that a small (6%) and almost significant (p = 0.066) fraction of the variation within the data is due to differences between the genders and that the haplotype diversity is higher among females than among males. No significant differences in haplotype variation were found among geographical regions. The near significant differences between females and males, despite low variation in ITS and rpl16, in this first study ever of potential differences in haplotype variation between genders of dioecious mosses suggests that further investigations of more specimens and more variable molecular markers should be performed. Such studies could potentially reveal patterns of relevance to understanding, for example, immigration routes and to pin-point refugial areas of different significance to the respective genders.
The genus Artemisia is one of the largest of the Asteraceae family. It is abundant and diverse, with complex taxonomic relations. In order to expand the knowledge about the classification of Kazakhstan species and compare it with classical studies, matK genes of nine local species including endemic were sequenced. The infrageneric rank of one of them (A. kotuchovii) had remained unknown. In this study, we analysed results of sequences using two methods — NJ and MP and compared them with a median-joining haplotype network. As a result, monophyletic origin of the genus and subgenus Dracunculus was confirmed. Closeness of A. kotuchovii to other species of Dracunculus suggests its belonging to this subgenus. Generally, matK was shown as a useful barcode marker for the identification and investigation of Artemisia genus.
Š Stangler Herodež, B Zagradišnik, A Erjavec Škerget, A Zagorac, I Takač, V Vlaisavljević, L Lokar and N Kokalj Vokač
The objective of this study was to analyze the methylenetetrahydrofolate reductases (MTHFRs) C677T and A1298C genotype distributions in couples with unexplained fertility problems (UFP) and healthy controls, and to analyze the genotype and haplotype distribution in spontaneously aborted embryonic tissues (SAET) using allele specific polymerase chain reaction (PCR) in 200 probands with UFP, 353 samples of SAET and 222 healthy controls. The analysis revealed a significant overall representation of the 677T allele in male probands from couples with UFP (p = 0.036). The combined genotype distribution for both MTHFR polymorphisms was also significantly altered (χ2 21.73, p <0.001) although female probands made no contribution (c2 1.33, p = 0.72). The overall representation of the 677T allele was more pronounced in SAET (0.5 vs. 0.351 in controls, p <0.001) regardless of the karyotype status (aneuploidy vs. normal karyotype). In addition, the frequencies of the CA and CC haplotypes were significantly lower than in the control group (p = 0.021 and p = 0.001, respectively), whereas the frequency of the TC haplotype was significantly higher than in controls (p <0.0001). The presented findings indicate that only male probands contribute to the association of MTHFR mutations with fertility problems in grown adults and demonstrate a high prevalence of mutated MTHFR genotypes in SAET.
Jakubczak Andrzej, Gryzinska Magdalena, Horecka Beata, Dziadosz Katarzyna and Jezewska-Witkowska Grazyna
The gene MYO15A is involved in the production of a protein included in the group of motor proteins known as myosins. Myosin XVA is located in the inner ear, the pituitary gland and other tissues, and has a substantial influence on the hearing process. Mutations in this gene cause amino acid substitutions in the conserved motor domain of the myosin chain, leading to shortening of the stereocilia in the hair cells, so that the function of myosin XVA is impaired. A research hypothesis was put forth that mutations in the gene responsible for the hearing process in animals of the Canidae family can cause hypoacusis, as well as substantial behavioural changes in dogs (ranging from timidity to aggressive behaviour). The study determined SNP polymorphism in a fragment of the gene MYO15A, which can cause hearing disorders or hypoacusis, in wild and farmed individuals of the Canidae family.
Thelazia callipaeda is a parasitic nematode causing ocular infections in different mammalian species and humans, clinically manifested as lacrimation, conjunctivitis, keratitis, corneal opacity or corneal ulcer. In this paper, we reported six cases of autochthonous canine and feline thelaziosis on different localities in Serbia. Total of 285 parasites (85 males and 200 females) were collected from the eyes of infected animals (n=6) suffering from uni- or bilateral conjunctivitis, with the number of parasites ranging from 7 to 150 per animal. All parasites were morphologically identified as T. callipaeda, while molecular analyses of cytochrome oxidase 1 (cox1) gene revealed the presence of h1 haplotype, as the unique previously reported in other studies in Europe. Since T. callipaeda is a newly detected parasite in Serbia with the infective potential for humans, there is a necessity for animal owners education and cooperation among professional services in order to control this zoonosis.
Tran Quang Binh, Vu Thi Thu Hien, Nguyen Cong Khan, Nguyen Thi Lam, Le Bach Mai, Masayo Nakamori and Shigeru Yamamoto
Background: Both in vitro and in vivo studies have shown that calcitriol, the active form of vitamin D, is involved in hematopoiesis. Vitamin D receptor (VDR) gene has been suggested as one of the candidate genes for anemia. Objective: Investigate relationship between anemia and the commonly studied polymorphisms of VDR gene (FokI, BsmI, ApaI and TaqI) in terms of genotype and haplotype in Vietnamese. Methods: A case-control study including 132 postmenopausal women without chronic kidney diseases was designed to investigate the relationship between VDR polymorphism and anemia. Four single nucleotide polymorphisms (SNPs) FokI (rs2228570), BsmI (rs1544410), ApaI (rs7975232), and TaqI (rs731236) were typed by polymerase chain reaction and restriction fragment length polymorphism method. Results: Genotype distributions of four SNPs were in Hardy-Weinberg equilibrium in both anemia and control groups. The SNPs at the 3’end of the VDR gene (BsmI, ApaI and TaqI) exhibited a strong linkage disequilibrium. There was no significant association between anemia and VDR polymorphism in terms of allele, genotype, and haplotype in the analyses unadjusted or adjusted for the covariates (age, body mass index, educational level, serum ferritin, iron and albumin). Conclusion: VDR gene did not influence anemia in postmenopausal women without chronic kidney disease. For further study on the association between VDR gene and anemia, the use of larger sample size, a prospective study design, and additional markers would enhance the reliability and validity of findings.
Type 2 diabetes (T2D) is a chronic disorder with different genetics and environmental factors. It is one of growing diseases in the world. Previous studies show association between Transcription Factor 7 Like2 (TCF7L2) and T2D. The current study set to evaluate the relation between TCF7L2 polymorphisms and T2D in Southeast Iran. The present case-control study was done on 250 T2D and 250 healthy controls (HCs). For genotyping polymorphisms TCF7L2 (rs11196205) and (rs4132670) Amplification-Refractory Mutation System-Polymers Chain Reaction (ARMS-PCR) was used. The results showed frequency rates of GC and CC genotypes increased in patients compared to controls (31% vs. 6% and 55% vs. 8%, respectively), showing a statistically significant difference (OR=2.67(1.37-5.21), P<0.05 and OR=3.31(1.92-5.71), P< 0.05, respectively). The C allele was associated with an increased risk of T2D, with the frequency of 28% and 11% in patients and controls, respectively (OR=3.11 (2.22-4.37), P< 0.05). Another Polymorphism of this gene TCF7L2 (rs4132670) was not associated with T2D. Furthermore, the haplotype analysis revealed that rs11196205C/rs4132670C and rs11196205C/rs4132670T are risk factors against T2D (OR=2.08 (1.49-2.86, P<0.05 and OR=1.72 (1.06-2.78) P<0.05, respectively). The findings demonstrated that TCF7L2 (rs11196205) genotypes GC, CC, and allele (C) confer risk for susceptibility to T2D.