Phenotypic Polymorphism Research Articles

Phenotypic polymorphism of leaves among the populations of Moroccan chestnut (Castanea sativa Mill.)

Moroccan chestnut populations cover a small area in northern Morocco. They occupy great environmental and socio-economic interests. Nonetheless, such interests remained unvalued and little studied. This study aims to characterize and assess phenotypic similarities (or disparities) among the Moroccan populations of C. sativa via univariate and multivariate analyses of leaves traits. The experiments involved 6200 leaves from 31 populations, 10 trees per population, and 20 leaves per tree. Six morphometric parameters [blade area (S), perimeter (P), lamina length (LL), lamina width (LW), distance between the base and largest width (DBW), petiole length (PL)] and four ratios [LL/LW, LL/LP, LL/DBW, DBW/LP] were analyzed. Analysis of descriptive statistics within and between populations showed large variations among the studied parameters. This trend was supported as well by the analysis of variance (ANOVA) which revealed a highly significant differences (P <0.0001). Furthermore, the statistical analysis revealed a high phenotypic plasticity. The correlation analysis showed a significant relationship between most of the studied parameters. The principal component analysis (PCA) assigned the studied populations into two groups. We conclude that the studied parameters have great potential to determine the phenotypic polymorphism of C. sativa populations

Study of interactions between CFH gene polymorphism and retinal pigment epithelium phenotype in age-related macular degeneration

Annotation. AMD (age-related macular degeneration) is one of the leading causes of blindness in the world, associated with the formation of extracellular deposits called drusen in the macula, i.e. in the central part of the retina. These drusen contain cellular debris and proteins, including components of the complement system, such as the regulator CFH (complement factor H). Complement dysregulation is believed to play a major role in the development of AMD. CFH acts through its ability to recognize polyanionic structures (eg, sulfated GAGs (glycosaminoglycans)) found in host tissues, and thus CFH inactivates any complement system (C3b) that is deposited. Importantly, the common CFH (Y402H) polymorphism was strongly associated with an increased risk of AMD. Recent studies have shown that the disease-associated allotype 402H interacts more poorly (compared to 402Y) with binding sites in the macula (eg, Bruch's membrane), where GAGs (glycosaminoglycans), heparan sulfate, and dermatan sulfate play a major role in mediating the interaction with CFH. Decreased binding of the 402H allotype may lead to complement dysregulation, leading to chronic local inflammation that may contribute to drusen accumulation and thus the initiation, development, and progression of AMD. That is why the goal of our study was to highlight the effect of the rs1061170 polymorphism of the CFH gene on the occurrence and development of age-related macular degeneration and to clarify the intensity of this pathological effect. The study group consisted of 291 people suffering from AMD (89 – with the “dry” form, 97 – with the “wet” form), the comparison group – 105 people without a history of ophthalmic pathology of the corresponding age. Optical coherence tomography (SOCT Copernicus “Optopol”) of the macular area of the retina was used in the study. We used the parameter ILM-RPE (internal limiting membrane-retinal pigmented epithelium). DNA was isolated from the biological material obtained by the buccal scraping method using the Bio-Rad Chelex ® 100 kit. Polymerase chain reaction was used to detect the rs1061170 polymorphism of the CFH gene. Statistical processing of the obtained results was carried out using Statistica 10 (StatSoft, Inc., USA) and SPSS 23.0 programs. The following were used: Hardy-Weinberg equilibrium (Hardy–Weinberg); Kruskal-Wallis test ANOVA by Ranks and Friedman ANOVA and Kendall Coeff. of Concordance; H-criterion; indicators of the odds ratio (OR; Odds Ratio – OR) and 95% probable interval (±95% CI; Confidence limit for means Interval – CI); used the method of analysis of operating characteristic curves (ROC – Receiver Operating Characteristic curve analysis); used special formulas using 2x2 tables. Our results confirm the high prognostic significance of the rs1061170 polymorphism of the CFH gene on the development and progression of AMD in the Ukrainian population. Indicators of specificity and sensitivity of SNP genotypes are ambiguous.

GENETIC VARIATIONS OF IN VITRO PROPAGATED MD2 PINEAPPLES USING DNA-BASED MARKERS

Genetic variation determinations among micro-propagated plants is often tested to prevent the occurrence of morphological abnormalities which are deemed unsuitable for commercial use. Although the MD2 pineapple has been widely propagated clonally, there is no genetic fidelity testing on the micro-propagated MD2 pineapple. This study aims to determine genetic variations among the micro-propagated MD2 pineapples using Randomly amplified polymorphic DNA (RAPD) and inter simple sequence repeats (ISSR) markers. The amplification of both markers across 22 pineapple genotypes generated 120 bands with polymorphism percentages of between 93% and 73%, respectively. The evaluation through Rp, PIC and MI showed RAPD more informative (Rp = 7.08, PIC = 0.34, MI = 1.72) compared to ISSR (Rp = 4.17, PIC = 0.32, MI = 1.00). The PCA resulted in indefinite clustering patterns while the dendrograms portray the inability of the markers to correlate the plant morphology with their genetic structure. An analysis of molecular variance (AMOVA) analysis found high genetic variation (>70%) within the pineapples under review. Meanwhile, the Phi statistic estimate showed a wide genetic variation among the studied genotypes. To conclude, both markers suggest that the plant morphology did not inevitably correlate to its genetic structure. This study may form the basis for the MD2 breeding programme and explore other molecular markers that can potentially correspond to phenotypic polymorphisms.

Metabolic detoxification and ace-1 target site mutations associated with acetamiprid resistance in Aedes aegypti L.

Despite the continuous use of chemical interventions, Aedes-borne diseases remain on the rise. Neonicotinoids are new, safer, and relatively effective pharmacological interventions against mosquitoes. Neonicotinoids interact with the postsynaptic nicotinic acetylcholine receptors (nAChRs) of the insect central nervous system, but the absence of nAChR polymorphism in resistant phenotypes makes their involvement in neonicotinoid resistance uncertain. Thus, an investigation was carried out to understand the role of metabolic detoxification and target site insensitivity in imparting acetamiprid resistance in Aedes aegypti larvae. Studies were conducted on the parent susceptible strain (PS), acetamiprid-larval selected strain for five generations (ACSF-5; 8.83-fold resistance) and 10 generations (ACSF-10; 19.74-fold resistance) of Ae. aegypti. The larval selection raised α-esterase and β-esterase activities by 1.32-fold and 1.34-fold, respectively, in ACSF-10 as compared to PS, while the corresponding glutathione-S-transferase and acetylcholinesterase activity increased by 22.5 and 2%. The ace-1 gene in PS and ACSF-10 showed four mismatches in the 1312—1511 bp region due to mutations in the Y455C codon (tyrosine to cysteine) at the 1367th position (TAC→TGC); I457V codon (isoleucine to valine) at 1372 bp and 1374 bp (ATA→GTG); and R494M codon (arginine to methionine) at 1484 bp (AGG→ATG). The R494M mutation was the novel and dominant type, observed in 70% ACSF-10 population, and has not been reported so far. The studies evidenced the combination of metabolic detoxification and target site mutation in imparting acetamiprid resistance in Ae. aegypti.

Clinical and genotypic analysis in determining dystonia non-motor phenotypic heterogeneity: a UK Biobank study

The spectrum of non-motor symptoms in dystonia remains unclear. Using UK Biobank data, we analysed clinical phenotypic and genetic information in the largest dystonia cohort reported to date. Case–control comparison of dystonia and matched control cohort was undertaken to identify domains (psychiatric, pain, sleep and cognition) of increased symptom burden in dystonia. Whole exome data were used to determine the rate and likely pathogenicity of variants in Mendelian inherited dystonia causing genes and linked to clinical data. Within the dystonia cohort, phenotypic and genetic single-nucleotide polymorphism (SNP) data were combined in a mixed model analysis to derive genetically informed phenotypic axes. A total of 1572 individuals with dystonia were identified, including cervical dystonia (n = 775), blepharospasm (n = 131), tremor (n = 488) and dystonia, unspecified (n = 154) groups. Phenotypic patterns highlighted a predominance of psychiatric symptoms (anxiety and depression), excess pain and sleep disturbance. Cognitive impairment was limited to prospective memory and fluid intelligence. Whole exome sequencing identified 798 loss of function variants in dystonia-linked genes, 67 missense variants (MPC > 3) and 305 other forms of non-synonymous variants (including inframe deletion, inframe insertion, stop loss and start loss variants). A single loss of function variant (ANO3) was identified in the dystonia cohort. Combined SNP and clinical data identified multiple genetically informed phenotypic axes with predominance of psychiatric, pain and sleep non-motor domains. An excess of psychiatric, pain and sleep symptoms were evident across all forms of dystonia. Combination with genetic data highlights phenotypic subgroups consistent with the heterogeneity observed in clinical practice.

Phenotypic polymorphism in Wilson’s disease – between genetics and epigenetics

Background: Wilson’s disease is a rare, autosomal recessive genetic disorder that affects the biliary excretion of copper and its toxic accumulation in various tissues, especially the liver and brain. It is widespread throughout the world, with a high prevalence in socio-culturally isolated communities. The course of the disease and the age of onset depend on the site of mutation in the gene and the degree of functional impairment of the ATP7B protein. The presence of the compound heterozygous patient complicates the comparative genetic and clinical evaluation. Therefore, it is necessary to analyze Wilson’s variants in both the homozygous and the compound-heterozygous conditions to better understand the genotype-phenotype correlations and the incomplete penetrance observed in this disorder. Outlining clear phenotype-genotype associations is difficult due to a large number of mutations and different clinical presentations, but the involvement of epigenetic factors, modifying genes, environmental and lifestyle factors could explain the differences in evolution and onset in members of the same family and not only. Conclusions: Wilson’s disease is a genetically and clinically complex disorder. Although the results of genotype-phenotype correlation studies are not well defined, and in some cases are completely contradictory, some peculiarities related to the age of onset, sex, clinical phenotype, and the evolution of the disease have been highlighted. The interaction between genetic mutations and epigenetic factors may explain the phenotypic variability, but needs further study.

The evolution and diversification of oakleaf butterflies

Oakleaf butterflies in the genus Kallima have a polymorphic wing phenotype, enabling these insects to masquerade as dead leaves. This iconic example of protective resemblance provides an interesting evolutionary paradigm that can be employed to study biodiversity. We integrated multi-omic data analyses and functional validation to infer the evolutionary history of Kallima species and investigate the genetic basis of their variable leaf wing patterns. We find that Kallima butterflies diversified in the eastern Himalayas and dispersed to East and Southeast Asia. Moreover, we find that leaf wing polymorphism is controlled by the wing patterning gene cortex, which has been maintained in Kallima by long-term balancing selection. Our results provide macroevolutionary and microevolutionary insights into a model species originating from a mountain ecosystem.

Biochemical and immunological markers of the adaptive response in olfacto-odorimetric studies

The purpose of the study is to determine whether exposure to odours of model food odourants can lead to a change in biochemical and immunological parameters that we previously used when examining the population in the area of food industry enterprises location using the method of quantitative olfacto-odorimetry. Methods. The specified concentrations of aerosols of three food flavours (orange, cognac and coffee) were supplied to the participants of the studies with a help of ECOMA T08 olfactometer. Quantitative composition of the aerosols was controlled by GC/MS. In participants saliva samples taken before, during and at the end of each experiment, the intensity of luminol-dependent chemiluminescence, the content of secretory IgA, IL-1β, IL-6 and IL-8, the activity of α-amylase and N-acetyl-β-D-glucosaminidase were determined. For data analysis, paired Friedman and Wilcoxon tests were used with Bonferroni correction for the problem of multiple comparisons. Results. A reliable effect of the smell of food odourants was found on one indicator only - the activity of salivary α-amylase - when combining data from 5 separate experiments (n=45): 93.3[24.3;160.0] U/ml at the end of the experiments against background values of 109.9 [42.5; 216.7] U/ml;, p=0.0096 with a significance level of p=0.05/3=0.017. A decrease in the average values of salivary α-amylase activity was shown to hide opposite changes in individual values: an increase in activity in people with low background values (below the median of the initial distribution) and an amplitude-dominant decrease - in people with high background values (above median). The revealed phenotypic polymorphism of α-amylase regulation contributes to one of relevant Post-COVID areas - the study of the ability of people to perceive odours and react to them. Limitations. The use of olfacto-odorimetry to study effect of odours on human health indicators is promising, but requires design of protocols with extended exposure time. Conclusion. A decrease in average values of salivary α-amylase activity with distinctive forestall of the upper quartile may be a sign of human reflex re sponse to the emission of odourous substances in the areas of food industry.

DdRAD-Seq reveals evolutionary insights into population differentiation and the cryptic phylogeography of Hyporhamphus intermedius in Mainland China.

Species differentiation and local adaptation in heterogeneous environments have attracted much attention, although little is known about the mechanisms involved. Hyporhamphus intermedius is an anadromous, brackish‐water halfbeak that is widely distributed in coastal areas and hyperdiverse freshwater systems in China, making it an interesting model for research on phylogeography and local adaptation. Here, 156 individuals were sampled at eight sites from heterogeneous aquatic habitats to examine environmental and genetic contributions to phenotypic divergence. Using double‐digest restriction‐site‐associated DNA sequencing (ddRAD‐Seq) in the specimens from the different watersheds, 5498 single nucleotide polymorphisms (SNPs) were found among populations, with obvious population differentiation. We find that present‐day Mainland China populations are structured into distinct genetic clusters stretching from southern and northern ancestries, mirroring geography. Following a transplant event in Plateau Lakes, there were virtually no variations of genetic diversity occurred in two populations, despite the fact two main splits were unveiled in the demographic history. Additionally, dorsal, and anal fin traits varied widely between the southern group and the others, which highlighted previously unrecognized lineages. We then explore genotype–phenotype‐environment associations and predict candidate loci. Subgroup ranges appeared to correspond to geographic regions with heterogeneous hydrological factors, indicating that these features are likely important drivers of diversification. Accordingly, we conclude that genetic and phenotypic polymorphism and a moderate amount of genetic differentiation occurred, which might be ascribed to population subdivision, and the impact of abiotic factors.

A socially polymorphic Formica ant species exhibits a novel distribution of social supergene genotypes.

Most supergenes discovered so far are young, occurring in one species or a few closely related species. An ancient supergene in the ant genus Formica presents an unusual opportunity to compare supergene‐associated phenotypes and the factors that influence the persistence of polymorphism in different species. We investigate the genetic architecture of social organization in Formica francoeuri, an ant species native to low‐ and mid‐elevation semiarid regions of southern California, and describe an efficient technique for estimating mode of social organization using population genomic data. Using this technique, we show that F. francoeuri exhibits polymorphism in colony social organization and that the phenotypic polymorphism is strongly associated with genotypes within the Formica social supergene region. The distribution of supergene haplotypes in F. francoeuri differs from that of related species Formica selysi in that colonies with multiple queens contain almost exclusively workers that are heterozygous for alternative supergene haplotypes. Moreover, heterozygous workers exhibit allele‐specific expression of the polygyne‐associated haplotype at the candidate gene Knockout, which is thought to influence social organization. We also report geographic population structure and variation in worker size across a large fraction of the species range. Our results suggest that, although the Formica supergene is conserved within the genus, the mechanisms that maintain the supergene and its associated polymorphisms differ among species.

Cardiac Multislice Computed Tomography in the Detection of Phenotypic Polymorphism of Hypertrophic Cardiomyopathy

Background. Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disease with a prevalence of 1 case per 500 people and is the most common cause of sudden cardiac death in young patients. As clinical manifestations and electrocardiographic data are nonspecific and diverse, noninvasive imaging techniques play a key role in the detection of HCM and the understanding of its pathophysiology.
 The aim. To evaluate the possibilities of ECG-synchronized cardiac multislice computed tomography (MSCT) as a highly informative diagnostic tool for assessing the morpho-functional state of the heart in patients with HCM.
 Materials and methods. This was a retrospective analysis conducted at the National Amosov Institute of Cardiovascular Surgery from January 2020 to December 2021. We examined 221 cardiac MSCT scans of patients who underwent the examination to assess the spread of myocardial hypertrophy. Particular attention was paid to the presence of crypts at different levels of the left ventricle (LV), anatomical features of the mitral valve and subvalvular apparatus. The presence of systolic pulling of the anterior mitral valve to the interventricular septum, myocardial mass, LV end-diastolic, LV end-systolic volumes and the corresponding indices of body surface area, ejection fraction were determined and calculated during the functional analysis. Additionally, the anatomy and patency of the coronary arte­ ries were assessed. The studies were performed on a 640-slice Canon Aquilion One CT scanner with retrospective ECG gating and subsequent image processing. The studies were transferred to a workstation for review and evaluation by a team of radiologists.
 Results. The mean patient age was 46 ± 23 years, 48% were male. Mean maximal LV wall thickness was 19 mm (range 16–34). In 159 patients (71.9%), there was an asymmetric form of HCM with a predominant thickening of the anterior and anteroseptal segments of the left ventricle at the basal and midventricular levels. Fifty-four (24.4%) patients had symmetric form of HCM. The midventricular form of HCM was detected in 4 patients (1.8%). Apical form of HCM was detected in 3 patients (1.3%). One patient was diagnosed with a tumor-like variant of HCM (0.5%). In 198 patients (89.6%), systolic anterior motion of the mitral valve to the interventricular septum was found. In 95 cases (42.9%), morphological abnormality, abnormality of the number or attachment of the papillary muscles were detected. Forty-eight myocardial crypts were detected in 44 patients (21.7%). In 194 patients (87.7%), patent coronary arteries without signs of stenosis were found, 68 patients (30.7%) had 74 myocardial bridges (33.4%).
 Conclusions. HCM is a genetic heart disease with enormous phenotypic diversity. Due to its high spatial resolution, cardiac MSCT is an accurate diagnostic tool, which allows to assess the morphofunctional state of the LV, mitral valve, subvalvular apparatus, as well as to analyze the anatomy and narrowing of coronary arteries in patients with HCM.

Study of interactions between HTRA1 gene polymorphism and retinal pigment epithelial phenotype in age-related macular degeneration

Annotation. Age-related macular degeneration is a multifactorial nosology caused by the interaction of various risk factors, but the pathogenesis remains unclear. An alternative point of application in the pathogenesis of the disease was the product of the HTRA1 gene, which is actively expressed in retinal epithelial cells and modulates their response to stimuli. That is why the aim of our study was to elucidate the effect of the rs11200638 polymorphism of the HTRA1 gene on the occurrence and development of age-related macular degeneration and to determine the intensity of this pathological effect. The study group consisted of 291 individuals, while the comparison group consisted of 105 individuals of the appropriate age. Optical coherence tomography of the macular area of the retina using the ILM-RPE parameter was used to establish the diagnosis. Real-time polymerase chain reaction was used to detect polymorphism on the BioRad CFX 96 thermocycler-amplifier. Statistical processing of the results was performed by determining Hardy-Weinberg equilibrium, Kruskal-Wallace methods, logistic regression using OR and 95% CI curves and indicators of sensitivity and specificity. The study found a predominance of wild type among the comparison group, while heterozygous and mutant genotypes were almost equally distributed among patients with “dry” and “wet” forms of age-related macular degeneration (AMD). A statistically significant associative association was found between the mutant allele A and the occurrence of both atrophic (OR=7.75; 95% CI 3.87-15.49) and neovascular (OR=3.3; 95% CI 1, 89-5.91) forms of AMD (p<0.001). Subsequent analysis revealed a significant statistical relationship between variant AA and “wet” AMD (OR=21.3; 95% CI 2.57-176.8; p<0.001), as well as between heterozygous variant and “dry” (OR=7.7; 95% CI 3.8-15.46) and “wet” (OR=2.45; 95% CI 1.36-4.43) forms of the disease (p <0.01). In addition, the use of single nucleotide polymorphism (SNP) rs11200638 allows with a specificity of 59.2-98.4% and a sensitivity of 12.5-83.9% to diagnose AMD, depending on its form and the available genotype of the patient. Thus, our results indicate the high significance of the prognostic effect of the rs11200638 polymorphism of the HTRA1 gene on the development and progression of AMD, and the sensitivity and specificity indicators allow the use of the definition of this SNP to diagnose the disease.

Methodological Study on the Establishment of HLA/HPA Gene Bank of Platelet Donors and Its Clinical Application.

The current study aimed at establishing a large-scale platelet donor database with known HPA and HLA genotypes in Ningbo, to provide matched platelets for the clinic and prevent the occurrence of ineffective immune platelet transfusion refractoriness (PTR). The platelet banks of clinical donor wtih HLA-A, HLA-B, HPA1, HPA2, HPA3, HPA4, HPA5, HPA6, HPA10, HPA15 and HPA21 genotyps were established. Meanwile, the platelet gene matching was performed on the donor. It was found that there were phenotype polymorphisms in 1000 donnors with HPA1, HPA2, HPA3, HPA4, HPA5, HPA6, HPA10, HPA15 and HPA21 genotyps, and allel polymorphism distribution in donnors with HPA1, HPA2, HPA3, HPA4, HPA5, HPA6, HPA15, HPA21 genotyps. The frequency of HPA10 was a gene, and not b gene, showing a single linear distribution. The HPA 2, HPA3, HPA15 system were the most polymorphic with three phenotypes: aa, ab, bb. In the HLA-A allele, the highest frequency is A*11:01 (24.25%). There were 13 alleles that were greater than 1%, such as A*24:02, A*02:01, A*33:03, and the accumulated frequency reached 96.20%. In the HLA-B allele, the highest gene frequency was B*40:01 (13.40%). There were 24 alleles that were greater than 1%, such as B*46: 01, B*58: 01, B*15: 01, and the accumulated frequency reached 91.60%. Platelet antibody cross matching was performed on 100 blood samples from patients with thrombocytopenia after multiple platelet transfusions. The number of consistent samples was 46 (46%). Twenty patients were transfused with platelet cross matching. Among them, 18 patients had obvious improvement in clinical symptoms and good hemostatic effect after transfusion, which was judged to be effective. Platelet donor HPA and HLA-A, B antigen genotyping database provided patients with individual appropriate platelets, and provided the effectiveness of immune platelet infusion ensuring effective platelet transfusion.

A novel approach to establishing a temporomandibular joint fibrocartilage cell line

Background/purposeThe temporomandibular joint (TMJ) is a bi-arthrodial joint that is composed of the temporal bone glenoid fossa and the condylar head of the mandible both having fibrocartilaginous articular surfaces. Functional overloading of the TMJ is the main cause of TMJ osteoarthritis (TMJ OA) disease. The aim of this study was to establish immortalized TMJ fibrocartilage cell clones to provide enough cells to adequately investigate the molecular mechanisms studies of TMJ OA. Materials and methodsWe have isolated temporomandibular condyle chondrocytes from adult Sprague Dawley rat. The cells were cultured and immortalized by treating with Y-27632, a well-characterized inhibitor of Rho-Associated Kinase (ROCK). Clones were characterized on the basis of cell morphology and analyses of marker gene expression through 45 passages. ResultsCells from the condylar fibrocartilage of the TMJ were successfully immortalized by ROCK inhibitor, retaining a consistent cuboidal cell morphology and the expression of several cell markers of polymorphic cell fate. In addition, they retained phenotype features similar to the primary parental TMJ fibrocartilage cells when the cells were challenged with different cytokines and growth factors. ConclusionThese studies establish a novel immortalized cell line through ROCK inhibitor Y-27632, that retains the polymorphic phenotype of primary cell lines from TMJ fibrocartilage chondrocyte cell through a high number of passages, serving as a valuable preclinical resource for mechanistic in vitro assessment of TMJ health, disease, and regeneration.

Deep whole-genome resequencing sheds light on the distribution and effect of amphioxus SNPs

BackgroundAmphioxus is a model organism for vertebrate evolutionary research. The significant contrast between morphological phenotypic similarity and high-level genetic polymorphism among amphioxus populations has aroused scientists' attention. Here we resequenced 21 amphioxus genomes to over 100X depth and mapped them to a haploid reference.ResultsMore than 11.5 million common SNPs were detected in the amphioxus population, which mainly affect genes enriched in ion transport, signal transduction and cell adhesion, while protein structure analysis via AlphaFold2 revealed that these SNPs fail to bring effective structural variants.ConclusionsOur work provides explanation for “amphioxus polymorphism paradox” in a micro view, and generates an enhanced genomic dataset for amphioxus research.

Skin structure, coloration, and habitat utilization in typical and melanistic morphs of the grass snake (Natrix natrix).

Melanism is a polymorphic phenotype caused by the number and density of melanocyte cells producing melanin pigment in the skin and widely observed in snakes. The frequency of this coloration in populations is associated with its opposing fitness consequences and can be closely related to species-specific characteristics such as sex, reproduction, and nutrition, as well as environmental factors such as climate and geography. Although melanism is frequently seen in snakes, the skin structure of melanistic individuals has not been studied in detail. Also, the impact of the black phenotype on habitat use has not yet been clarified in this species. Here, we show a comparison of typical and melanistic morphs of the grass snake Natrix natrix population of Anatolia for the first time in terms of skin structure, habitat, and sex. We found that melanistic individuals, in which partial melanism is more abundant than total melanism, comprise 13% of the population. Melanocyte area of the skin is 1.4 times greater in melanistic compared to the typical individuals. The epidermis is thicker in typical morphs by 7.7%. Hinge regions between adjacent scales do not bare melanocytes in both morphs. As for habitat utilization, we revealed that melanistic individuals of the Işıklı population tend to occur closer to water bodies than typical ones. Our data provide a new perspective on poorly known aspects of color polymorphism and habitat use of widely distributed, semi-aquatic Natrix natrix.

Crouzon Syndrome Anatomy, Usefulness of Vestibular Orientation

Spatial resolution of computerized tomographic scanner has reached a level to which accurate anatomic measurements could be done in. Three-dimensional accurate measurements require a reliable referential system. In craniology landmarks are usually selected in the skull base. For craniofacial malformation the classical landmarks are of no help so the authors have used the vestibular orientation to study a series of 50 Crouzon syndrome computerized tomographic scan and compare the results (shape, position, linear mensuration, volumes…) with 122 controls in unaffected patients. The authors have confirmed Crouzon description of a high level of polymorphism in phenotypes, the authors propose an organigram to understand the abnormal growth patterns in crouzon syndrome, which lead to such consequences. This polymorphism implies that the planning of surgical treatment should be tailored for each case.

Somatic Dimorphism in Cercariae of a Bird Schistosome.

Phenotypic polymorphism is a commonly observed phenomenon in nature, but extremely rare in free-living stages of parasites. We describe a unique case of somatic polymorphism in conspecific cercariae of the bird schistosome Trichobilharzia sp. “peregra”, in which two morphs, conspicuously different in their size, were released from a single Radix balthica snail. A detailed morphometric analysis that included multiple morphological parameters taken from 105 live and formalin-fixed cercariae isolated from several naturally infected snails provided reliable evidence for a division of all cercariae into two size groups that contained either large or small individuals. Large morph (total body length of 1368 and 1339 μm for live and formalin-fixed samples, respectively) differed significantly nearly in all morphological characteristics compared to small cercariae (total body length of 976 and 898 μm for live and formalin samples, respectively), regardless of the fixation method. Furthermore, we observed that small individuals represent the normal/commonly occurring phenotype in snail populations. The probable causes and consequences of generating an alternative, much larger phenotype in the parasite infrapopulation are discussed in the context of transmission ecology as possible benefits and disadvantages facilitating or preventing the successful completion of the life cycle.

Association between isoniazid induced hepatotoxicity and host N-acetyltransferase 2 polymorphisms

Isoniazid(INH, H) has been a key drug for treating drug-susceptible tuberculosis (TB) for nearly seventy years. The differences in the pharmacokinetic(PK) might affect INH absorption. Low plasma concentration is related to less treatment outcomes and vice versa, but higher plasma concentrations can induce hepatotoxicity or death. Factors that can cause fluctuations in blood concentration include INH absorption (i.e. drug-drug or drug-food interactions and other diseases such as gastrointestinal problems, diabetes or TB) and abnormal metabolization by the liver. N-acetyltransferase 2 (NAT2) genetic polymorphism significantly affects the plasma concentrations of INH. However, there is a lack of guidelines for the management of adverse drug reactions caused by isoniazid therapy, and the only measures taken to address adverse reactions to isoniazid are abrupt discontinuation of the drug or reduction in the dose of isoniazid based on clinical experience, but such measures could lead to the development of drug resistance in Mycobacterium tuberculosis. Therefore, further clarification of the correlation between the host NAT2 genotype and its phenotypic polymorphisms, plasma isoniazid concentration and adverse effects can help to improve the efficacy and minimize the adverse effects.

Phenotypic polymorphism, pomological and chemical characteristics of some local varieties of fig trees (Ficus carica L.) grown in Eastern Morocco

The fig tree (Ficus carica L.) is one of the earliest fruit trees cultivated in Morocco, especially in the north-eastern region; which is growing inextricably linked to our social and cultural heritage. This study concerns morpho-pomological and chemical parameters of five local fig varieties, namely: Aounk Hmam “AH”, Chetoui “CH”, Bounacer “BN”, Ghoudane “GH”, and Malha “MA”. Significant differences were observed among the studied fig cultivars for some of the parameters investigated. In particular, the average fruit weight that ranged from 29.72 g to 58g for MA and AH respectively. At the ripening stage, fruits “MA” show the best skin cracks, while fruits “AH” are distinguished by their ease of peeling.In terms of titratable acidity, “AH” has the lowest value, while “CH” has the highest level. For the sweetest and tastiest variety of figs, Brix readings (expressed as total soluble solids content) registred range between 27 - 35% respectively for the MA and GH . According to the results of the parameters evaluated, particularly the acidity and the Brix index, the best varieties worthy of consideration from an agricultural and industrial point of view are “AH” and “CH” cultivars.