Department Of Genetics Research Articles

Identification of Transgressive Segregation for Yield and Resistance to Yellow Stem Borer (Scirpophaga incertulas Walker) in F2 Segregating Generation of Six Rice Crosses (Oryza sativa L.)

The research investigation on the occurrence of transgressive segregation in F2 populations derived from six rice crosses namely: ADT 43 X TKM 6, ADT 43 X ASD 12, ADT 45 X TKM 6, ADT 45 X ASD 12, ASD 16 X TKM 6 and ASD 16 X ASD 12 with the aim of identifying superior genotypes for yield and resistance to the yellow stem borer (Scirpophaga incertulas). This research was conducted through series of field observations for transgressive segregants at Plant Breeding Farm, Department of Genetics and Plant Breeding, Faculty of Agriculture, Annamalai University during Kharif season of 2022. The crosses involved high-yielding but susceptible female parents (ADT 43, ADT 45, ASD 16) and YSB resistant but low yielding male parents (TKM 6, ASD 12). In the F2 generation, a wide range of phenotypes was observed for yield-related traits and YSB resistance. Twelve superior transgressive segregants were identified in each cross, exhibiting increased grain yield per plant, number of productive tillers, and number of grains per panicle, coupled with high levels of resistance to YSB. The results suggest that the parents carried different alleles and genes governing yield and its component traits, allowing the accumulation of favorable alleles in the F2 progeny through recombination. The identification of these high-performing transgressive segregants provides opportunities for further evaluation and potential use in rice breeding programs to develop improved cultivars with enhanced yield and biotic stress resistance.

Exploring the Genetic Diversity and Agronomic Performance of Okra Varieties Using Variance Analysis

The experiment was conducted at the experimental field of Genetics and Plant Breeding Department of Sher-e-Bangla Agricultural University, Dhaka Bangladesh during March 2017 to July 2017. The experiment was conducted in randomized complete block design with three replications. Twenty eight genotypes of okra were used in this study which was collected from Bangladesh Agricultural Research Institute (BARI), Gazipur and local market. The extent of diversity present between genotypes determines the extent of improvement gained through selection and hybridization. The more divergent the two genotypes are the more will be the probability of improving through selection and hybridization. Mean square of most of the characters studied revealed that genotypes showed highly significant (P< 0.01) differences for all the traits studied. High genotypic and phenotypic coefficient of variation were observed for primary branches (43.91 and 33.64) and fruit yield per plant (37.51 and 32.48). So, divergent genotypes are recommended to use as parents in future hybridization program.

Abstract PO1-10-01: Racial/Ethnic Disparities in Rates of Pathological Complete Response and Survival in Patients with Inflammatory Breast Cancer

Abstract Radiation Therapy Toxicities and Survival Outcomes in Monoallelic ATM Variant Carriers with Non-Metastatic Breast Cancer: A Retrospective Analysis Rayan Bensenane1 MD, Arnaud Beddok1,2,3 MD, Nadine Andrieu4 PhD, Fabienne Lesueur4 PhD, Eve Cavaciuti 4 MSc, Dorothee Le Gal4 MSc, Eon-Marchais Severine4 PhD, Dominique Stoppa Lyonnet 5MD PhD, Youlia Kirova1 MD 1. Institut Curie, PSL Research University, Radiation Oncology Department, Paris/Saint-Cloud/Orsay, France. 2. Gordon Center for Medical Imaging, Massachusetts General Hospital, Harvard Medical School, 125 Nashua St., Boston, MA, 02114, USA 3. Institut Curie, PSL Research University, University Paris Saclay, Inserm LITO U1288 Orsay, France 4. Inserm, U900, Institut Curie, PSL Research University, Mines ParisTech, Paris, France 5.Department of Genetics, Institut Curie; Inserm U830, Institut Curie; Paris-Cité University Abstract (characters: 2952; max 3400 characters, not include spaces) Background: The Ataxia-Telangiectasia Mutated (ATM) gene, involved in the repair of DNA double-strand breaks, can contribute to radiosensitivity when a bi-allelic variant is present and lead to Ataxia-Telangiectasia syndrome. Moreover, monoallelic ATM pathologic variant (PV) carriers, especially women, has an estimated occurrence rate of 0.5-1% globally and face a 2 to 3-fold increased risk of developing breast cancer. Despite evidence of in vitro radiosensitivity in cells derived from monoallelic variant carriers, there is a dearth of patient studies examining the risk of radiation-induced toxicity. This study aims to explore radiation therapy (RT) toxicities in non-metastatic breast cancer women carrying a germline monoallelic ATM variant, compared to non-carriers. Methods: A retrospective study was conducted on patients treated at Institut Curie, Paris from 1999 to 2014 and participating to CoF-AT (a French national study) and GENESIS database. ATM variant screenings encompassed both PV and non-PV, with toxicities evaluated using CTCAE v.5. Variants were classified as pathogenic, variant of unknown significance (VUS), or benign. Follow-up started from age/date at breast cancer to acute, late toxicities, disease recurrence or last news. Survival and toxicity comparisons were made using Kaplan-Meier survival analysis and Chi-square tests, respectively, with a significance level of α set at 0.05. Results: Among 50 patients, nine were ATM variant carriers (3 PV/5 VUS/1 benign), and 41 were non-carriers. Most patients had no smoking history (68%), and invasive ductal carcinoma was the predominant diagnosis (82%). The majority underwent breast-conservative surgery (80%), and the dominant RT techniques were 3D-Conformational Radiation Therapy (70%) and Isocentric Lateral Decubitus (30%). The median RT dose was 50 Gy over an average period of 36.5 days. With a median follow-up of 12 years post-diagnosis, no significant difference in acute dermatitis, esophagitis, lymphedema, cutaneous fibrosis, telangiectasia, or heart disease was observed between the groups. Analysis of overall survival (OS) showed a 5-year OS of 98%, decreasing to 89% at 10 years. For ATM variant carriers, the OS at 5, 10, and 15 years was 100%, 89%, and 89%, respectively, similar to non-carriers. Kaplan-Meier analysis revealed no significant differences in 5, 10, and 15-year overall survival, progression-free survival, local failure-specific survival, and contralateral breast cancer rates between the groups. Conclusion: In non-metastatic breast cancer patients, monoallelic ATM variant carrier status does not significantly influence acute or late RT toxicities and survival outcomes. These findings, derived from a small cohort, highlight the need for prospective studies for further validation. Table: Acute and Late Toxicities Post-Radiation Therapy in Monoallelic ATM Variant Carriers vs Non-Carriers Citation Format: Rebecca Zasloff, Samantha Thomas, Kendra Parrish, Astrid Botty van de Bruele, Gayle DiLalla, Maggie DiNome, Laura Rosenberger, Hannah Woriax, E Shelley Hwang, Jennifer Plichta, Akiko Chiba. Racial/Ethnic Disparities in Rates of Pathological Complete Response and Survival in Patients with Inflammatory Breast Cancer [abstract]. In: Proceedings of the 2023 San Antonio Breast Cancer Symposium; 2023 Dec 5-9; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2024;84(9 Suppl):Abstract nr PO1-10-01.

Genotypic Variability, Correlation and Path Coefficient Analysis for Elite Genotypes of Chickpea (Cicer arietinum L.)

The study was conducted during the rabi season (October, 2021–April, 2022) at the Crop Research Centre, Department of Genetics and Plant Breeding, School of Agriculture, ITM University, Gwalior, Madhya Pradesh, focused on 30 chickpea genotypes to evaluate genetic variability, heritability, genetic advance, correlations and path analysis among quantitative traits. Utilizing a randomized block design, the study found that the number of pods plant-1 exhibited the highest variability, while pod length showed the least variability. Significant phenotypic and genotypic coefficients of variation highlighted substantial variability among the genotypes, with shoot length, root length, and the number of secondary branches displaying high genetic advance and heritability. This suggested the predominant influence of additive gene action on these traits, making them suitable for selection-based improvements. Genotypic and phenotypic correlations were generally similar, indicating minimal environmental influence on most traits. Positive correlations were identified between the number of primary branches, number of secondary branches, pods plant-1, seeds pod-1, seed index and other dependent traits, indicating their potential for enhancing crop yield through selection. The study further revealed significant direct associations among traits, emphasizing the presence of additive gene action and the feasibility of effective selection for improving chickpea characteristics. In conclusion, the findings offer valuable insights into the genetic variability and heritability of chickpea traits, guiding future breeding and selection programs for enhanced genotypes.

Cytogenomic characterization of small supernumerary marker chromosomes in patients with pigmentary mosaicism.

The combination of gene content on the marker chromosome, chromosomal origin, level of mosaicism, origin mechanism (chromothripsis), and uniparental disomy can influence the final characterization of sSMCs. Several chromosomal aberrations, including sSMCs, have been observed in 30%-60% of patients with pigmentary mosaicism, and in more than 80%, chromosomal abnormalities are present in the mosaic state. In patients with pigmentary mosaicism the most representative chromosomes involved in sSMCs are 3, 5, 6, 9, 10, 13, 15, 18, 20, and X. In this study, we included the complete clinical, cytogenetic, and molecular characterization of seven patients with pigmentary mosaicism associated with the presence of SMCs of different chromosomal origins. The patients were diagnosed by the Genetics and Dermatology Department of three different hospitals. Cytogenetic and FISH analyses were performed on peripheral blood, light skin, and dark skin. FISH analysis was performed using different probes, depending on the marker chromosome description. Different array analysis was performed. To date, of the seven cases studied, the chromosomal origins of six were successfully identified by FISH or array analysis. The chromosomes involved in SMCs were 6, 9, 15, and 18, X. The most frequently found was the centric minute structure. To date, this group of seven patients constitutes the largest clinical and cytogenetically finely described study of cases with pigmentary mosaicism associated with sSMCs. Undoubtedly, analysis of the two skin types is a fundamental part of our study, as numerical differences may occur in the cell lines found in each skin type. The knowledge generated in this study will help delineate a very heterogeneous entity more accurately, and in the future, analyzing more patients with PM will likely establish a more definite association with the presence of this genetic alteration.

Selection Index in Rainfed Upland Rice (Oryza sativa L.)

The present investigation was conducted in the Department of Plant Breeding and Genetics, College of Agriculture, Vellayani, Thiruvananthapuram during the period from May, 2014 to July, 2016. Twenty diverse rice genotypes were screened for drought tolerance.  Screening was carried out in the target environment i. e. upland virippu. Morphological characters of the genotypes were studied.  A selection index was developed for identifying the best six parents combining yield and drought tolerance. Twenty upland rice genotypes were assessed for study of genetic variability and construction of selection indices for enhancing selection efficiency. The indices were worked out on the basis of yield and eight component characters viz., panicle length, number of spikelets panicle-1, number of filled grains panicle-1, grain weight panicle-1, 1000 grain weight, straw yield plant-1, harvest index and biological yield plant-1 having high significant genotypic correlation with grain yield.  Among the twenty genotypes Vaishak ranked first with the highest index value followed by Thottacheera, Kalladiaryan, Vyttila 6, Harsha and Swarnaprabha. The varieties with least index value were Uma, Aathira and Kanchana. The highest index value showing first six parents were considered for hybridization program for the development of drought tolerant variety.

Genomic multidisciplinary teams: A model for navigating genetic mainstreaming and precision medicine.

Recent rapid advances in genomics are revolutionising patient diagnosis and management of genetic conditions. However, this has led to many challenges in service provision, education and upskilling requirements for non-genetics health-care professionals and remuneration for genomic testing. In Australia, Medicare funding with a Paediatric genomic testing item for patients with intellectual disability or syndromic features has attempted to address this latter issue. The Sydney Children's Hospitals Network - Westmead (SCHN-W) Clinical Genetics Department established Paediatric and Neurology genomic multidisciplinary team (MDT) meetings to address the Medicare-specified requirement for discussion with clinical genetics, and increasing genomic testing advice requests. This SCHN-W genomic MDT was evaluated with two implementation science frameworks - the RE-AIM (Reach, Effectiveness, Adoption, Implementation, Maintenance) and GMIR - Genomic Medicine Integrative Research frameworks. Data from June 2020 to July 2022 were synthesised and evaluated, as well as process mapping of the MDT service. A total of 205 patients were discussed in 34 MDT meetings, facilitating 148 genomic tests, of which 73 were Medicare eligible. This was equivalent to 26% of SCHN-W genetics outpatient activity, and 13% of all Medicare-funded paediatric genomic testing in NSW. 39% of patients received a genetic diagnosis. The genomic MDT facilitated increased genomic testing at a tertiary paediatric centre and is an effective model for mainstreaming and facilitating precision medicine. However, significant implementation issues were identified including cost and sustainability, as well as the high level of resourcing that will be required to scale up this approach to other areas of medicine.

Screening of Lentil Genotypes Against Wilt of Lentil (Lens culinaris Medik L.) Caused by Fusarium oxysporum F. SP. Lentis in Glasshouse Condition

Wilt of lentil is most damaging disease of lentil caused by the fungus Fusarium oxysporum f. sp. lentis. It causes severe crop damage from vegetative to reproducing stage which results in yield reduction. Fol isolates shows high variability and aggressiveness according to the climatic condition. So to overcome from this disease there are many ways of management like by cultural, mechanical, biological and chemical practices. Resistant variety selection is one of the best ecofriendly cultural management of the disease. So for this purpose one hundred genotypes were taken and screened through pot screening technique under glasshouse was carried out at the Student Instructional Farm (SIF), in the department of Plant Pathology, Acharya Narendra Deva University of Agriculture and Technology, Kumarganj, Ayodhya, which is situated in the IndoGangatic plains of eastern Uttar Pradesh at a latitude of 26.470 and an altitude of 113 meters above sea level during Rabi 2020-21. One hundred genotypes of lentil were obtained from the Department of Genetics and Plant breeding, N.D. University of Agriculture and Technology, Kumarganj, Ayodhya and IIPR, Kalyanpur, Kanpur (U.P.).Out of 100 genotypes, 41 genotypes were found highly resistant, 30 genotypes resistant, 8 genotypes moderately resistant, 10 genotypes susceptible and 11 genotypes highly susceptible to Fusarium wilt.

A historical perspective on Lionel Penrose: Scientist, geneticist and dedicated opponent of eugenics.

The paper explores Lionel Penrose's scientific work. Penrose investigated the causes of mental disorders from clinical and genetic points of view. His investigations on phenylketonuria and Down syndrome helped to demonstrate the heterogenous character of mental disorders, whose causes can range from genetic with high penetrance, to largely environmental. He was specifically selected by JBS Haldane to become University College London's third Galton Chair as a result of his Colchester survey investigations. He became the first Galton Chair who had medical training. He never concealed his distaste for anything related to eugenics. As well as using his scientific work to reject eugenic ideas such as suggestions on sterilisation measures or the existence of a social problem group, he campaigned successfully to rename the Department of Eugenics, Biometry and Genetics to Department of Human Genetics and Biometry. With his work, he discredited prejudiced eugenic ideas on mental disorders and became an advocate for those with mental disabilities.

Estimation of Correlation Coefficient Analysis for Yield and Component Traits in Field Pea (Pisum sativum L.)

The present investigation entitled “Estimation of Correlation Coefficient Analysis for Yield and Component Traits in field pea (Pisum sativum L.)” for 10 characters. The experiment comprising of 23 genotypes of pea were grown in a Randomized Block Design (RBD), with three replications at Research Farm, Department of Genetics & Plant Breeding, Post Graduate College, Ghazipur, during rabi season of 2017-2018, plant to plant and row to row distance was kept 10 cm and 45 cm, respectively. The maximum positive and significant phenotypic correlation coefficient (0.834) was found between seed yield per plant, biological yield per plant. Positive and significant correlations were observed between seed yield per plant and number of pods per plant, plant height. Positive and significant correlations were also recorded between biological yield per plant and plant height, number of pods per plant. Similarly number of pods per plant had positive and significant correlation with plant height.

Study on the Effect of Trichoderma viride on Phosphate Solubilizing Microorganisms in Paddy Cultivation with the Combination of Chemical Fertilizer on soil Fertility Parameters

Trichoderma viride, biological control with Trichoderma viride is an eco-friendly and has potential approach for managing plant diseases. It also aids in phosphate solubilization. Phosphate Solubilizing Microorganisms are ubiquitous, whose number varies from soil to soil. The present work on, ‘Effect of Trichoderma viride on Phosphate Solubilizing Microorganism in Paddy cultivation” was conducted under lower gangetic alluvial region from 2016-2017(December to May) at Agricultural Experimental Station of Calcutta University, Baruipur, 24 Parganas (South), West Bengal. The Rice variety “Satabdi (IET-4786)” from the department of Genetics and Plant Breeding was sown and recommended fertilizer dose of 80:40:40 kg per hectare. The experiment was carried out with six treatments replicated four times. Out of the six treatments, T3 which received T.V and P.S showed highest Carbon, Phosphorus and Potassium content and T6 showed highest Nitrogen content in the soil

Correlation and Path Analysis Studies in Mungbean [Vigna radiata (L.) Wilczek] under Arid Environment of Western Rajasthan

Background: Mungbean is an important grain legume crop. It contains a high amount of protein, carbohydrates, vitamins and minerals. The productivity of this crop is still low, hence efforts should be made to improve the yield of mungbean by keeping knowledge about association between seed yield and its components. Thus, the present investigation was aimed to determine the correlation and path coefficient analysis for seed yield and its attributing traits in mungbean. Methods: Seventy-nine diverse genotypes of mungbean were evaluated during Kharif 2017-18 for eleven quantitative traits in randomized block design with three replications at the Experimental farm, Department of Genetics and Plant Breeding, College of Agriculture, Swami Keshwanand Rajasthan Agricultural University, Bikaner, Rajasthan. Result: Significant genotypic differences were observed for all the traits studied indicating a considerable amount of variation among genotypes for all the characters. The seed yield per plant exhibited highly significant and positive correlation with number of pods per plant, biological yield per plant, harvest index, number of seeds per pod and pod length. The characteristics such as biological yield per plant, harvest index, number of pods per plant, pod length, number of seeds per pod, plant height, 100-seed weight and days to 50 per cent flowering had high positive direct effect on seed yield per plant. Therefore, selection based on the traits viz., number of pods per plant, biological yield per plant, harvest index, number of seeds per pod, 100-seed weight and pod length could help in enhancing the seed yield per plant in mungbean.

Beyond the phenotype: Exploring inherited retinal diseases with targeted next-generation sequencing in a Turkish cohort.

This research aims to compile recent clinical and genetic data from Turkish patients with inherited retinal disorders and evaluate the effectiveness of targeted Next-generation sequencing panels. The study included Turkish individuals with hereditary retinal diseases who visited the Medical Genetic Department of Erciyes University between 2019 and 2022. One proband per family was selected based on eligibility. We used Hereditary Disorder Solution (HDS) by Sophia Genetics and performed next-generation sequencing (NGS) with Illumina NextSeq-500. Bioinformatics analysis using Sophia DDM® SaaS algorithms and ACMG guidelines classified genomic changes. The study involved 354 probands. Disease-causing variants were found in 58.1% of patients, with ABCA4, USH2A, RDH12, and EYS being the most frequently implicated genes. Forty-eight novel variants were detected. This study enhances the knowledge of clinical diagnoses, symptom onset, inheritance patterns, and genetic details for Turkish individuals with hereditary retinal disease. It contributes to broader health strategies by enabling comparisons with other studies.

Optimization of Multiplex-PCR Technique To Determine Azf Deletions in infertility Male Patients.

To optimize the multiplex polymerase chain reaction (M-PCR) technique to diagnose microdeletions of azoospermia factors (AZF) on the Y chromosome and initially apply the technique to diagnose male patients with sperm density less than 5×106 million sperm/mL was assigned to do a test to check for AZF microdeletions on the Y chromosome. Based on the positive control samples which belong to male subjects who have had 2 healthy children without any assisted reproductive technologies, the M-PCR method was developed to detect simultaneously and accurately AZF microdeletions on 32 male patients with sperm densities below 5×106 million sperm/mL of semen at the Department of Biology and Medical Genetics - Vietnam Military Medical University. Successful optimization of the M-PCR technique including 7 reactions arranged according to each AZFabc region using 24 STS/gene on the Y chromosome. Initial application to diagnose AZF deletion on 32 azoospermic and oligospermic men reveals that AZFa deletion accounts for 6.25% (2/32); deletion of all 3 regions AZFa,b,c with 18.75% (6/32 cases); The combined deletion rate of AZFb,c is highest, accounting for 56.24% (18/32 patients). Successfully optimized the M-PCR technique in identifying AZF microdeletions using 24 sequence tagged sites (STS)/gene for azoospermic and oligozoospermic men. The M-PCR technique has great potential in the application of AZF deletion diagnosis.

Assessment of Genetic Diversity in Cluster Bean [Cyamopsis tetragonoloba (L.) Taub]

Background: Twenty six genotypes of cluster bean [Cyamopsis tetragonoloba (L.) Taub] were evaluated under randomized block design with three replications under the field condition to estimate the range of variability and diversity present in cluster bean genotypes for fifteen yield and yield contributing traits. Methods: The experiment was carried out at Research Farm, Department of Genetics and Plant Breeding, N. M. College of Agriculture, Navsari Agricultural University, Navsari, Gujarat in the year 2020 on twenty-six genotypes of cluster bean. Result: Correlation coefficients of fifteen traits estimates indicated positive and highly significant correlation of seed yield per plant with pods per plant, pods per cluster, pod yield per plant and seeds per plant, so these characters should be considered for selection for increasing yield in cluster bean. Gum content was negatively and significantly correlated with days to 50% flowering, seed yield per plant and 100 seed weight at genotypic level hence, selection for gum content might not be desirable for test seed weight and seed yield. Principal component analysis revealed significant variation among traits evaluated with the five principal components explaining approximately the 75.8% of the total variation with ³1 eigen values. Most of the variation contributed by the pods per cluster, pods per plant, gum content, pod yield per plant and seed yield per plant, these traits should be considered while selecting the cluster bean genotypes. The PCA- biplot revealed GAUG-1305, GG-1801, RGC-936 and RGC-986 as the most diverse genotypes for various traits. Cluster analysis distributed 26 cluster bean genotypes into three different clusters by UPGMA method. In the present investigation, the genotype GAUG-1305 recorded higher pods per plant, while GAUG-1502 for higher pod yield per plant, the genotype RGC-1003 for high pod length and RGC-936 exhibited higher pods per cluster, seeds per pod and seed yield per plant. So, these genotypes could be used in the future breeding programs.

Cognitive impairment assessment through handwriting (COGITAT) score: a novel tool that predicts cognitive state from handwriting for forensic and clinical applications.

Handwriting deteriorates proportionally to the writer's cognitive state. Such knowledge is of special importance in the case of a contested will, where dementia of the testator is claimed, but medical records are often insufficient to decide what the testator's cognitive state really was. By contrast, if the will is handwritten, handwriting analysis allows us to gauge the testator's cognitive state at the precise moment when he/she was writing the will. However, quantitative methods are needed to precisely evaluate whether the writer's cognitive state was normal or not. We aim to provide a test that quantifies handwriting deterioration to gauge a writer's cognitive state. We consecutively enrolled patients who came for the evaluation of cognitive impairment at the Outpatient Clinic for Cognitive Impairment of the Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Sciences (DINOGMI) of the University of Genoa, Italy. Additionally, we enrolled their caregivers. We asked them to write a short text by hand, and we administered the Mini Mental State Examination (MMSE). Then, we investigated which handwriting parameters correlated with cognitive state as gauged by the MMSE. Our study found that a single score, which we called the COGnitive Impairment Through hAndwriTing (COGITAT) score, reliably allows us to predict the writer's cognitive state. The COGITAT score may be a valuable tool to gage the cognitive state of the author of a manuscript. This score may be especially useful in contested handwritten wills, where clinical examination of the writer is precluded.

A Follow-Up Study of Children Diagnosed with Delayed Speech and Language

Objective: The aim of our study was to examine the current health status of children with normal peripheral hearing who were referred to the audiology clinic with complaints of speech and language delay in early childhood.
 Methods: The data of a retrospective file review in which the information of 105 children with normal hearing ages 12-60 months referred to the Audiology Clinic with complaints of speech and language delay were used in the study. After the initial diagnosis of delayed speech and language (approximately two years), their medical condition was assessed through semi-structured telephone interviews. The obtained data are presented with descriptive statistics.
 Results: Out of 105 children, 54 (51.4%) were diagnosed with other additional diagnoses including; autism spectrum disorder:21 (20%), general developmental delay: 13 (12.3%), attention deficit and hyperactivity disorder: 9 (8.5%), epilepsy: 4 (3.8%).7 (6.6%) of children followed from endocrine, neurology, genetics, cardiology, nephrology and ophthalmology departments. 51 children (48.57%) have achieved the average level of speech and language development with interventions such as speech and language therapy and/or social support in the following period, and they do not currently have any medical follow-up. 
 Conclusion: The results indicated that cases where children who apply with the complaint of speech and language delay may have additional diagnoses in the future, or they can achieve the average level of speech and language development with specialist interventions. Long-term follow-up of this delay is important in terms of providing effective communication skills and the probability of being a diagnostic marker.

Family case of cystic fibrosis

Cystic fibrosis is an autosomal recessively inherited monogenic disease caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, located on the long arm of chromosome 7 (7q31.2). This mutation results in a disruption in the transport of sodium and chloride ions between intercellular fluid and the epithelial cells of the excretory ducts of the exocrine glands. This paper presents the description of a family case of cystic fibrosis involving two patients who have been under observation since birth and are sisters (patient A – 4 years 10 months, patient B – 1 year 11 months). In both patients, neonatal screening and sequential diagnosis of cystic fibrosis identified the DF508/CFTRdele2.3(21kb) mutation, the most prevalent among the Caucasian population in the Russian Federation. The primary concern in managing both patients is the correction of nutritional status and minimization of exacerbations of chronic bronchopulmonary inflammation. To determine the management strategy for these patients, a consultation was held with Dr. E.I. Kondratyeva, a leading cystic fibrosis expert and professor at the MGSC Institute, who serves as the head of the Scientific and Clinical Department of Cystic Fibrosis and the Department of Genetics of Respiratory System Diseases, an expert of the European Society for Cystic Fibrosis Committee on Diagnostics and Registry, and Deputy Chief for Scientific Work of Research Clinical Institute of Childhood of the Ministry of Health of the Moscow Region. The peculiarity of the presented clinical cases lies in the fact that within one family, with an interval of 3 years, two girls with severe disease were born. Early diagnosis was performed for both, which has allowed for the slowing down of the pathology's progression.

Identification of four novel mutations in VSP13A in Iranian patients with Chorea-acanthocytosis (ChAc).

Chorea-acanthocytosis (ChAc) is a rare autosomal recessive neurodegenerative disorder characterized by a variety of involuntary movements, predominantly chorea, and the presence of acanthocytosis in peripheral blood smears. ChAc is caused by mutations in the vacuolar protein sorting-associated protein 13A (VPS13A) gene. The aim of the present study was to conduct a clinical and genetic analysis of five patients with suspected ChAc in Iran.This study included five patients who were referred to the genetic department of the Endocrinology and Metabolism Research Institute between 2020 and 2022, with a suspicion of ChAc. Clinical features and the presence of characteristic MRI findings were evaluated in the patients. Whole-exome sequencing (WES) followed by Sanger sequencing was employed to identify the disease-causing variants. The functional effects of novel mutations were analyzed by specific bioinformatics prediction tools.WES and data analysis revealed the presence of five distinct VPS13A mutations in the patients, four of which were novel. Theseincluded one nonsense mutation (p.L984X), and three splice site mutations (c.755-1G>A, c.144+1 G>C, c.2512+1G>A). All mutations were validated by Sanger sequencing, and in silico analysis predicted that all mutations were pathogenic.This study provides the first molecular genetic characteristics of Iranian patients with ChAc, identifying four novel mutations in the VPS13A gene. These findings expand the VPS13A variants spectrum and confirm the clinical variability in ChAc patients.

Phenotyping in Rye Landrace and Regeneration Frequency Study in Wheat × Rye F1 Hybrid Seeds

The present research aimed to study the phenotyping characterization of a high-altitude Himalayan rye landrace and its crossability with wheat genotypes and investigate the regeneration frequency of wheat × rye F1 hybrid seeds. The study was conducted during the rabi season of 2022-2023 at the Agriculture Research Farm, Department of Plant Breeding and Genetics, Lovely Professional University, Phagwara, Punjab. The phenotypic characterization of the Himalayan rye landrace revealed several adaptive traits that were found suitable for cultivation in the northwest Indo-Gangetic plains. Furthermore, the study investigated the crossability of the Himalayan rye landrace with various wheat genotypes, including 4 genotypes of bread wheat HD2967, UNNAT 343, WH1105, and PBW502 and 4 genotypes of durum wheat PDW291, PDW274, PBW34, and WHD943. Among the germination percentage of all 8 genotypes, 4 in Bread wheat and 4 in Durum wheat was observed. Due to its self-incompatibility, Rye cannot be used to develop inbred lines directly. However, the doubled haploid approach can produce inbred lines in the rye, facilitating the extension of genetic bases and introducing alien chromatin to identify stress tolerances.