Hereditary Patterns Research Articles

THE USE OF MNEMONIC METHODS AND ASSOCIATIVE CARDS IN STUDYING GENETICS ANNOTATION

This article explores the effectiveness of using mnemonic techniques and associative cards in the study of genetics. The focus is on the principles of how associative cards function and their role in enhancing the memorization of complex genetic terms and processes. The literature review supports the positive impact of visualization and associations on students’ cognitive activities, highlighting how these methods facilitate the retention of challenging information in fields like biology and genetics. Mnemonic techniques, which combine verbal and visual elements, help learners build stronger cognitive connections and improve recall accuracy. Associative cards are discussed as a tool for integrating visual and textual information, allowing students to grasp genetic concepts such as DNA replication, mutations, and hereditary patterns more effectively.Moreover, the article examines the practical implementation of mnemonic methods in the modern educational system, particularly focusing on the use of digital platforms like Quizlet and Anki. These platforms utilize spaced repetition techniques to improve long-term retention, making the learning process more flexible and interactive. The research emphasizes how personalized study approaches, using these cognitive tools, contribute to better learning outcomes and overall academic performance.The conclusions show that the incorporation of mnemonic techniques and associative cards into genetics education not only enhances student engagement but also significantly improves the efficiency of mastering complex biological concepts. This study underlines the potential of these methods to be further integrated into educational curricula to address learning challenges in genetic studies.

Hereditary Patterns and Genetic Associations in Obsessive-Compulsive Disorder (OCD): Neuropsychiatric Insights, Genetic Influences, and Treatment Perspectives.

Obsessive-Compulsive Disorder (OCD), a prevalent neuropsychiatric condition, affects approximately 2%-3% of the global population. This paper provides an extensive overview of OCD, detailing its clinical manifestations, neurobiological underpinnings, and therapeutic approaches. It examines OCD's classification shift in the DSM-5, the role of the cortico-striatothalamo- cortical pathway in its development, and the various factors contributing to its etiology, such as genes, environmental factors, and genetic predispositions. The challenges in diagnosing OCD and the effectiveness of both psychological and pharmacotherapeutic treatments are discussed. The paper also highlights the significant overlap between OCD and other mental health disorders, emphasizing its impact on global disability. Moreover, the role of genetic factors in OCD, including twin studies and gene association studies, is elaborated, underscoring the complex interplay of hereditary and environmental influences in its manifestation. The review further delves into the polygenic nature of OCD, illustrating how multiple genes contribute to its development, and explores the implications of genetic studies in understanding the disorder's complexity. Additionally, this research study delves into the concept of polygenic inheritance in complex diseases, highlighting the role of multiple genes in increasing OCD risk. A Genome-wide Association Study (GWAS) is employed to assess Single Nucleotide Polymorphisms (SNPs) to unearth genetic associations with OCD. This comprehensive analysis provides valuable insights into OCD's genetic landscape, paving the way for enhanced diagnostic approaches and treatment modalities.

Sporadic Parathyroid Adenoma: A Pilot Study of Novel Biomarkers in Females.

Background and Objectives: Parathyroid adenoma is a distinct cause of primary hyperparathyroidism, with the vast majority being sporadic ones. Proteomic analysis of parathyroid adenomas has proposed a large number of related proteins. The aim of this study is to evaluate the immunohistochemical staining of ANXA2, MED12, MAPK1 and VDR in parathyroid adenoma tissue. Materials and Methods: Fifty-one parathyroid adenomas were analyzed for ANXA2, MED12, MAPK1 and VDR expressions. Tissue was extracted from formalin-fixed paraffin-embedded parathyroid adenoma specimens; an immunohistochemical study was applied, and the percentage of allocation and intensity were evaluated. Results: ANXA2 stained positively in 60.8% of all cell types, while MED12 had positive staining in 66%. MAPK1 expression was found to be negative in total, although a specific pattern for oxyphil cells was observed, as they stained positive in 17.7%. Finally, VDR staining was positive at 22.8%, based on nuclear staining. Conclusions: These immunohistochemical results could be utilized as biomarkers for the diagnosis of sporadic parathyroid adenoma. It is of great importance that a distinct immunophenotype of nodule-forming cells in a positive adenoma could suggest a specific pattern of adenoma development, as in hereditary patterns.

A registry-based study on universal screening for defective mismatch repair in colorectal cancer in Denmark highlights disparities in screening uptake and counselling referrals

Universal screening for defective mismatch repair (dMMR) in colorectal cancer utilizes immunohistochemical staining for MLH1, MSH2, MSH6 and PSM2. Additionally, BRAF V600E mutations status and MLH1 hypermethylation should be performed to distinguish germline and somatic dMMR alterations. A decade of Danish population-based registries has been analysed regarding screening uptake, detection rate and referral to genetic counselling. MMR testing was performed in 71·8% (N = 34,664) of newly diagnosed colorectal cancers with an increasing trend to 88·8% coverage in the study's final year. The likelihood of undergoing MMR testing was reduced in males with 2% (95% CI 0·4–2·7, p = 0·008), with 4·1% in patients above age 70 years (95% CI 1·5–6·6, p = 0·003) compared in patients below age 51 years, with 16·3% in rectal cancers (95% CI 15·1–17·6, p < 0·001) and 1·4% left-sided colon cancers (95% CI 0·1–1·7, p = 0·03) compared to right-sided colon cancers. Tumour stage II and III increased the likelihood of being tested, with 3·7% for stage II (95% CI 2·2–5·6, p < 0·001) and 3·3% for stage III tumours (95% CI 1·8–4·8, p < 0·001) compared to stage I tumours, whereas the likelihood for stage IV tumours is reduced by 35·7% (95% CI 34·2–37·2, p < 0·001). Test rates significantly differed between the Danish health care regions. dMMR was identified in 15·1% (95% CI 14·8–15·6, p < 0·001) cases with somatic MMR inactivation in 6·7% of the cases. 8·3% tumours showed hereditary dMMR expression patterns, and 20·0% of those were referred to genetic counselling. Despite the high uptake rates, we found disparities between patient groups and missed opportunities for genetic diagnostics.

Dermatoglyphic Phenotype of a Person As One of the Criteria For Its Identification

Introduction. One of the methods used to track the pattern of heredity and variability of human psychophenotypic traits is dermatoglyphic. It is used to study the hereditary patterns that form skin lines on the fingertips, palms, and soles of a person.&#x0D; The aim of the study to develop expert criteria for the informativeness of dermatoglyphic fingerprints in the system of forensic medical identification of a person.&#x0D; Materials and methods. The object of the study was fingerprint cards obtained from 460 people (200 women and 260 men) aged 18-59 years living in Ukraine. The dermatoglyphic method and the method of statistical analysis were used.&#x0D; Results. It has been established that dermatoglyphic features can be congenitally unchanged (pattern type and its orientation, comb and delta count, rudiments and dysplasias);&#x0D; congenital variables (altitude-latitude index, delta-interphalangeal fold distance, line density); acquired variables (white lines and scars).All these features have not only individual but also group variability.&#x0D; Conclusion. The proposed forensic classification of dermatoglyphic features does not include individual features of the structure of patterns (minutiae), the appearance of which is largely due to the action of random factors and therefore is valuable for forensic science (fingerprinting).

Parameterised and Fine-Grained Subgraph Counting, Modulo 2

Given a class of graphs H\\documentclass[12pt]{minimal} \\usepackage{amsmath} \\usepackage{wasysym} \\usepackage{amsfonts} \\usepackage{amssymb} \\usepackage{amsbsy} \\usepackage{mathrsfs} \\usepackage{upgreek} \\setlength{\\oddsidemargin}{-69pt} \\begin{document}$${\\mathcal {H}}$$\\end{document}, the problem ⊕Sub(H)\\documentclass[12pt]{minimal} \\usepackage{amsmath} \\usepackage{wasysym} \\usepackage{amsfonts} \\usepackage{amssymb} \\usepackage{amsbsy} \\usepackage{mathrsfs} \\usepackage{upgreek} \\setlength{\\oddsidemargin}{-69pt} \\begin{document}$$\\oplus \ ext {{Sub}}({\\mathcal {H}})$$\\end{document} is defined as follows. The input is a graph H∈H\\documentclass[12pt]{minimal} \\usepackage{amsmath} \\usepackage{wasysym} \\usepackage{amsfonts} \\usepackage{amssymb} \\usepackage{amsbsy} \\usepackage{mathrsfs} \\usepackage{upgreek} \\setlength{\\oddsidemargin}{-69pt} \\begin{document}$$H\\in {\\mathcal {H}}$$\\end{document} together with an arbitrary graph G. The problem is to compute, modulo 2, the number of subgraphs of G that are isomorphic to H. The goal of this research is to determine for which classes H\\documentclass[12pt]{minimal} \\usepackage{amsmath} \\usepackage{wasysym} \\usepackage{amsfonts} \\usepackage{amssymb} \\usepackage{amsbsy} \\usepackage{mathrsfs} \\usepackage{upgreek} \\setlength{\\oddsidemargin}{-69pt} \\begin{document}$${\\mathcal {H}}$$\\end{document} the problem ⊕Sub(H)\\documentclass[12pt]{minimal} \\usepackage{amsmath} \\usepackage{wasysym} \\usepackage{amsfonts} \\usepackage{amssymb} \\usepackage{amsbsy} \\usepackage{mathrsfs} \\usepackage{upgreek} \\setlength{\\oddsidemargin}{-69pt} \\begin{document}$$\\oplus \ ext {{Sub}}({\\mathcal {H}})$$\\end{document} is fixed-parameter tractable (FPT), i.e., solvable in time f(|H|)·|G|O(1)\\documentclass[12pt]{minimal} \\usepackage{amsmath} \\usepackage{wasysym} \\usepackage{amsfonts} \\usepackage{amssymb} \\usepackage{amsbsy} \\usepackage{mathrsfs} \\usepackage{upgreek} \\setlength{\\oddsidemargin}{-69pt} \\begin{document}$$f(|H|)\\cdot |G|^{O(1)}$$\\end{document}. Curticapean, Dell, and Husfeldt (ESA 2021) conjectured that ⊕Sub(H)\\documentclass[12pt]{minimal} \\usepackage{amsmath} \\usepackage{wasysym} \\usepackage{amsfonts} \\usepackage{amssymb} \\usepackage{amsbsy} \\usepackage{mathrsfs} \\usepackage{upgreek} \\setlength{\\oddsidemargin}{-69pt} \\begin{document}$$\\oplus \ ext {{Sub}}({\\mathcal {H}})$$\\end{document} is FPT if and only if the class of allowed patterns H\\documentclass[12pt]{minimal} \\usepackage{amsmath} \\usepackage{wasysym} \\usepackage{amsfonts} \\usepackage{amssymb} \\usepackage{amsbsy} \\usepackage{mathrsfs} \\usepackage{upgreek} \\setlength{\\oddsidemargin}{-69pt} \\begin{document}$${\\mathcal {H}}$$\\end{document} is matching splittable, which means that for some fixed B, every H∈H\\documentclass[12pt]{minimal} \\usepackage{amsmath} \\usepackage{wasysym} \\usepackage{amsfonts} \\usepackage{amssymb} \\usepackage{amsbsy} \\usepackage{mathrsfs} \\usepackage{upgreek} \\setlength{\\oddsidemargin}{-69pt} \\begin{document}$$H \\in {\\mathcal {H}}$$\\end{document} can be turned into a matching (a graph in which every vertex has degree at most 1) by removing at most B vertices. Assuming the randomised Exponential Time Hypothesis, we prove their conjecture for (I) all hereditary pattern classes H\\documentclass[12pt]{minimal} \\usepackage{amsmath} \\usepackage{wasysym} \\usepackage{amsfonts} \\usepackage{amssymb} \\usepackage{amsbsy} \\usepackage{mathrsfs} \\usepackage{upgreek} \\setlength{\\oddsidemargin}{-69pt} \\begin{document}$${\\mathcal {H}}$$\\end{document}, and (II) all tree pattern classes, i.e., all classes H\\documentclass[12pt]{minimal} \\usepackage{amsmath} \\usepackage{wasysym} \\usepackage{amsfonts} \\usepackage{amssymb} \\usepackage{amsbsy} \\usepackage{mathrsfs} \\usepackage{upgreek} \\setlength{\\oddsidemargin}{-69pt} \\begin{document}$${\\mathcal {H}}$$\\end{document} such that every H∈H\\documentclass[12pt]{minimal} \\usepackage{amsmath} \\usepackage{wasysym} \\usepackage{amsfonts} \\usepackage{amssymb} \\usepackage{amsbsy} \\usepackage{mathrsfs} \\usepackage{upgreek} \\setlength{\\oddsidemargin}{-69pt} \\begin{document}$$H\\in {\\mathcal {H}}$$\\end{document} is a tree. We also establish almost tight fine-grained upper and lower bounds for the case of hereditary patterns (I).

Genomic ancestry in kidney cancer: Correlations with clinical and molecular features.

Genetic ancestry (GA) refers to population hereditary patterns that contribute to phenotypic differences seen among race/ethnicity groups, and differences among GA groups may highlight unique biological determinants that add to our understanding of health care disparities. A retrospective review of patients with renal cell carcinoma (RCC) was performed and correlated GA with clinicopathologic, somatic, and germline molecular data. All patients underwent next-generation sequencing of normal and tumor DNA using Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets, and contribution of African (AFR), East Asian (EAS), European (EUR), Native American, and South Asian (SAS) ancestry was inferred through supervised ADMIXTURE. Molecular data was compared across GA groups by Fisher exact test and Kruskal-Wallis test. In 953 patients with RCC, the GA distribution was: EUR (78%), AFR (4.9%), EAS (2.5%), SAS (2%), Native American (0.2%), and Admixed (12.2%). GA distribution varied by tumor histology and international metastatic RCC database consortium disease risk status (intermediate-poor: EUR 58%, AFR 88%, EAS 74%, and SAS 73%). Pathogenic/likely pathogenic germline variants in cancer-predisposition genes varied (16% EUR, 23% AFR, 8% EAS, and 0% SAS), and most occurred in CHEK2 in EUR (3.1%) and FH in AFR (15.4%). In patients with clear cell RCC, somatic alteration incidence varied with significant enrichment in BAP1 alterations (EUR 17%, AFR 50%, SAS 29%; p=.01). Comparing AFR and EUR groups within The Cancer Genome Atlas, significant differences were identified in angiogenesis and inflammatory pathways. Differences in clinical and molecular data by GA highlight population-specific variations in patients with RCC. Exploration of both genetic and nongenetic variables remains critical to optimize efforts to overcome health-related disparities.

Prevalence and clinical correlates of ascending aortic dilatation in patients with noncompaction cardiomyopathy

Ascending aortic (AoAsc) dilatation can lead to acute aortic syndromes and has been described in various familial cardiac diseases. Its prevalence and clinical significance in patients with noncompaction cardiomyopathy (NCCM) are however unknown. Establishing the prevalence can facilitate recommendations on routine screening in NCCM. In this cross-sectional cohort study based on the Rijnmond Heart Failure/Cardiomyopathy Registry, the patient were enrolment between 2014 and 2021. All NCCM patients (n = 109) were age and sex matched with 109 dilated cardiomyopathy (DCM) patients as controls. The aortic diameters were measured through the parasternal long-axis transthoracic echocardiographic view at the sinuses of valsalva (SoV-Ao), sinotubular junction (STJ) and ascending aorta (AscAo). Dilatation was defined using published criteria adjusted for body surface area (BSA), sex, and age. Median age of age-sex matched NCCM and DCM patients was 45[31–56] vs. 45 [31–55] years with 53% males in both groups. NCCM patients had more familial hereditary patterns and genetic variants (55% vs. 24%, p < 0.001). DCM patients had more heart failure and left ventricular dysfunction (ejection fraction 34 ± 11 vs. 41 ± 12, p = 0.001). Ascending aortic dilatation was present in 8(7%) patients with NCCM and 5(5%) patients with DCM (p = 0.46). All dilatations were classified as mild. In conclusion, in this cross-sectional cohort study the prevalence of ascending aortic dilatation in NCCM patients was 7%, which were only mild dilatations and not significantly different from an age-sex matched cohort of DCM patients. Routine aortic dilatation screening therefore does not seem warranted in patients with NCCM.

Symptoms of Bipolar Disorder and Its Distinction with Other Disorder

Bipolar disorder (BD) is a severe mental disorder and had high prevalence among the world. The overall lifetime prevalence of BP-I, BP-II and subBP are 0.6%, 0.4% and 1.4%, respectively. This article will discuss symptoms, genetic traits, hereditary patterns and treating procedure of BD. Also, differences between BD and other mental disorders and differences between sub types of bipolar disorder will be discussed in this article. For bipolar disorder patients, they will experience manic episode and depressive episode alternatively, with interphase between the two episodes. Differences in etiological agents between BD and other mental disorder lied in difference in expression of allele and environmental factors, such as childhood trauma or stressful environment. Improvement in understanding of the etiological factors and symptoms of the disease could help researchers and psychiatrists to diagnose and treat the patients.

Genetic characteristics of suspected retinitis pigmentosa in a cohort of Chinese patients

The study aimed to screen for the causative variants in Chinese patients with suspected retinitis pigmentosa (RP). A cohort of 75 unrelated Chinese patients with a clinical diagnosis of RP and their available family members were enrolled in this study. Genomic DNA of all subjects was extracted and whole-exome sequencing (WES) was applied. Candidate variants were identified, and minigene assays were conducted to evaluate the pathogenicity of novel splicing variants. Totally, the diagnostic yield was 44 % (33/75) and 16 novel variants that had not been reported previously were found. Among the genetically solved 33 cases, 31 patients were identified as carrying causative variants of RP and 2 patients carried pathogenic variants implicated in other retinal diseases. USH2A, CYP4V2, and RPGR were the most common causative genes, accounting for about half of the genetically solved cases. Moreover, minigene assays validated that the novel splicing variants were detrimental. Additionally, 9 patients carried a single deleterious heterozygous variant in 6 genes with autosomal recessive hereditary patterns, and no corresponding copy number variants (CNVs) was detected. The findings of this study revealed the genetic landscape of RP in China and provided guidance for clinicians.

Degenerative physiochemical events in the pathological intervertebral disc.

Low back pain is one of the commonest musculoskeletal complaints that affects individuals of all ages and is a leading contributor towards work loss worldwide. The range of current treatment modalities involving surgeries, injectable agents, and medications is promising but cannot address the reasons behind the occurrence of pain in patients with degenerative disc pathologies. One possible factor for the limited success is the lack of evidence behind the identification of early, intermediate, and late stages of painful changes methodologically in a vast group of populations and the manifestation of the diseases in terms of increased physical activity, hereditary patterns, and various risk factors. However, despite these challenges, steady progress has been achieved in understanding the parameters in abnormally loaded progressively degenerating discs and these features have been elucidated at a physical, biochemical, and cellular level. These recent findings can likely lead to the development of therapeutic interventions that will identify and retard tissue damage, decrease pain, and improve the quality of life in these patients. Therefore, the main aim of this review is to integrate recent updates in intervertebral disc degeneration research for the development of evidence-based screening protocols and more targeted interventions in the management of low back pain.

Juvenile Amyotrophic Lateral Sclerosis: A Review.

Juvenile amyotrophic lateral sclerosis (JALS) is a rare group of motor neuron disorders with gene association in 40% of cases. JALS is defined as onset before age 25. We conducted a literature review of JALS and gene mutations associated with JALS. Results of the literature review show that the most common gene mutations associated with JALS are FUS, SETX, and ALS2. In familial cases, the gene mutations are mostly inherited in an autosomal recessive pattern and mutations in SETX are inherited in an autosomal dominant fashion. Disease prognosis varies from rapidly progressive to an indolent course. Distinct clinical features may emerge with specific gene mutations in addition to the clinical finding of combined upper and lower motor neuron degeneration. In conclusion, patients presenting with combined upper and lower motor neuron disorders before age 25 should be carefully examined for genetic mutations. Hereditary patterns and coexisting features may be useful in determining prognosis.

The Asthma Family Tree: Evaluating Associations Between Childhood, Parental, and Grandparental Asthma in Seven Chinese Cities.

Objective: To evaluate the associations between childhood, parental, and grandparental asthma.Methods: We studied 59,484 children randomly selected from 94 kindergartens, elementary, and middle schools in seven Chinese cities from 2012 to 2013, using a cross-sectional survey-based study design. Information on their and their family members' (parents, paternal grandparents, and maternal grandparents) asthma status were reported by children's parents or guardians. Mixed effects logistic regressions were used to assess hereditary patterns of asthma and mediation analysis was performed to estimate the potential mediation effect of parents on the association between grandparental asthma and childhood asthma.Results: The magnitude of ORs for childhood asthma increased as the number of family members affected by asthma increased. Among children who had one family member with asthma, childhood asthma was associated with asthma in maternal grandmothers (OR: 2.08, 95% CI: 1.67–2.59), maternal grandfathers (OR: 2.08, 95% CI: 1.71–2.53), paternal grandmothers (OR: 2.40, 95% CI: 1.93–2.99), and paternal grandfathers (OR: 2.59, 95% CI: 2.14–3.13). Among children who had two family members with asthma, the highest asthma risk was found when both parents had asthma (OR: 15.92, 95% CI: 4.66–54.45). Parents had a small proportion of mediation effect (9–12%) on the association between grandparental asthma and childhood asthma.Conclusions: Grandparents with asthma were associated with childhood asthma and parents with asthma partially mediated the association.

Changes in skeletal dysplasia nosology.

Skeletal dysplasia (SD), also called osteochondrodysplasia (OCD), is a large group of skeletal disorders (over 400 distinct entities) caused by abnormalities in bone development and growth. SDs varies according to different natural histories, prognoses, hereditary patterns to etiopathogenetic mechanisms. At birth, the incidence is low, reported at the level of each entity, but taken collectively; the incidence is estimated at 1:5000 births. Nosology is a branch of medical science. It deals with the systematic classification of diseases and disorders. Thus, combining information about the catalogue of clinically distinct disorders, pending molecular explanations, and genotype–phenotype correlations, the classification of SDs will be more accurate. This is extremely useful for diagnosing patients with genetic skeletal diseases, especially given the expected flow of information with new sequencing technologies. Over the years, various terms and classifications of SD have been used and have attempted to order and classify this group of genetic diseases according to clinical, radiological, and molecular criteria. In 2019, the Nosology Committee of the International Skeletal Dysplasia Society (ISDS) updated the classification of SD. This new classification divides SD into 42 large groups that include 461 entities. Advances in next-generation sequencing techniques have revolutionized the entire field of genetics, with 437 different genes are currently identified in 426 (92.4%) of SDs. Nosology is a real help for the clinician in establishing a diagnosis as accurately as possible, for the recognition of new diseases while serving as a guide for the interpretation of new genetic variants.

Microstructural studies of muscle tissue of lamb of aboriginal breeds of the Volga region

The article presents current information on the microstructure of muscle tissue of aboriginal young sheep of the Volga region. The efficiency of lifetime formation of meat productivity and consumer properties of lamb from young sheep of the Bakur breed, sold in the year of birth, is estimated by the method of microstructural analysis. The method of morphometric assessment revealed the features of individual development of animals, conditioned by hereditary patterns and environmental conditions affecting the exchange processes, that ultimately changes the individual development of animals.

Abstract IA43: Breast cancer and African ancestry

Abstract Variation in cancer incidence and outcome has well-documented correlations with racial-ethnic identity. In the United States, the possible genetic/ancestral hereditary explanations for these associations are confounded by socioeconomic, cultural, and lifestyle patterns. Differences in the breast cancer burden of African American (AA) compared to European/Caucasian (White) American (WA) women represent one of the most notable examples of disparities in oncology related to racial-ethnic identity. Elucidating the etiology of these associations is imperative in achieving the promise of the precision medicine initiatives. Population-based breast cancer mortality rates have been higher for AA compared to WA women since the early 1980s, likely reflecting declines in mortality among WA related to the advent of endocrine therapy, which is less effective in AA women because of the higher prevalence of estrogen receptor-negative disease. The increased risk of triple-negative breast cancer in AA women as well as western, sub-Saharan African women compared to WA, European, and east African women furthermore suggests that selected components of African ancestry are associated with hereditary susceptibility for specific patterns of mammary carcinogenesis. Oncologic anthropology represents a transdisciplinary field of research that can combine the expertise of population geneticists, translational oncologists, and behavioral scientists to elucidate breast cancer disparities related to racial-ethnic identity and to advance knowledge related to the pathogenesis of triple-negative breast cancer. This presentation will review associations between triple-negative/basal-like breast cancer and African ancestry, with a proposed mechanism based upon hereditary and population migration patterns. Citation Format: Lisa A. Newman. Breast cancer and African ancestry [abstract]. In: Proceedings of the Eleventh AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2018 Nov 2-5; New Orleans, LA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2020;29(6 Suppl):Abstract nr IA43.

Investigation of CRISPR/Cas9-induced SD1 rice mutants highlights the importance of molecular characterization in plant molecular breeding

Although Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)/CRISPR-associated 9 (Cas9) system has been widely used for basic research in model plants, its application for applied breeding in crops has faced strong regulatory obstacles, due mainly to a poor understanding of the authentic output of this system, particularly in higher generations. In this study, different from any previous studies, we investigated in detail the molecular characteristics and production performance of CRISPR/Cas9-generated SD1 (semi-dwarf 1) mutants from T2 to T4 generations, of which the selection of T1 and T2 was done only by visual phenotyping for semidwarf plants. Our data revealed not only on- and off-target mutations with small or lager indels but also exogenous elements in T2 plants. All indel mutants passed stably to T3 or T4 without additional modifications independent on the presence of Cas9, while some lines displayed unexpected hereditary patterns of Cas9 or some exogenous elements. In addition, effects of various SD1 alleles on rice height and yield differed depending on genetic backgrounds. Taken together, our data showed that the CRISPR/Cas9 system is effective in producing homozygous mutants for functional analysis, but it may be not as precise as expected in rice, and that early and accurate molecular characterization and screening must be carried out for generations before transitioning of the CRISPR/Cas9 system from laboratory to field.

Prevalence and genetic correlation evaluation of dental fluorosis in rural population of Nagpur, India

Dental fluorosis (DF) is a tooth malformation related to ingestion of high amount of fluoride (F) during tooth development. According to various surveys (1994 , 2000 & 2002), it is clearly established that DF has increased incidences rates in the areas with fluoridated water ranging from 7.7% upto 80.9% and only 2.9% to 42% in areas without fluoridated water. It was being observed that 10-20% of the rural population reported to department with dental fluorosis belonged to non-fluoridated areas. Several studies suggested that there was a weak corelationship between drinking water & DF severity. Aim: The present study was undertaken to investigate prevalence of dental fluorosis and hereditary patterns of dental fluorosis in identified individuals among rural population in vicinity of Nagpur district. Materials and Methods: A case control study was conducted at six rural places around Nagpur. The fluoride content was estimated from sample of drinking water from well and tap.384 individuals were selected using systematic random sampling method. A detailed case history was taken followed by reporting of DMFT and DMFS indices. The collected data was analyzed statistically using students’t test. Results: All the water samples tested reported F concentration varying with 0.267 to 1.081mg/ml. Prevalence of DF for individuals consuming well water(62.1%) was found to be significantly higher(p Conclusion: There was no correlation with DF and F concentration in drinking water, however its strong correlation exists with genetic component. Keywords: Dental fluorosis (DF)

Investigation on the deletion and duplication of PMP22 gene in patients with Charcot-Marie-Tooth using Real-time PCR in Chaharmahal and Bakhtiari and Isfahan Provinces

Background and aims: Charcot-Marie-Tooth (CMT) is a common sensory-motor polyneuropathy with a prevalence of 1/2500. It is divided into different subgroups and has various hereditary patterns. Among the different subgroups of CMT, type 1A is the most prevalent form of the disease, which is created due to the duplication of the PMP22 gene. In patients has a deletion in the PMP22 gene, the hereditary neuropathic disease is known to be liable to pressure. The aim of this study was to identify the patients affected by the disease with the new, simple, and fast qPCR method and to investigate the appropriateness of this method in evaluating these types of mutations. Methods: In this analytical-descriptive study (code:IR.SKUMS.REC.1394.152), gene duplication and deletion in the patients were studied using the Excel software. The blood samples of 15 families afflicted with CMT and 49 healthy individuals were collected in EDTA anticoagulant tubes and analyzed. DNA extraction and quantitative real-time PCR method were applied for the PMP22 gene as the target gene and the albumin gene as the internal control gene. Results: Two genes were compared in each patient, and it was found that 46% of the subjects had duplication in the PMP22 gene. Conclusion: The qPCR method is an easy and fast way to detect gene duplication and deletion in CMT patients. It does not require any statistical software and can be performed without needing for parental DNA. In addition, the results of this study are consistent with the results of various studies in some countries of the world where the highest levels of deletion and duplication in PMP22 gene are seen.

Left ventricular non - compaction: contemporary view of genetic background, clinical course, diagnostic and treatment

This review highlights and discusses recent advances in understanding left ventricular non - compaction (LVNC). Clinical profile, prognosis and even diagnosis are still a great challenge faced by the world. The population prevalence of left ventricular non - compaction remains unknown. High variability of clinical manifestations, genetic heterogenity with overlap of different phenotypes, variability of hereditary patterns suggests that LVNC seems to be rather an isolated trait or a part of phenotypic expression of different cardiac diseases or complex genetic syndromes.