Browsing by Author "Akash Kumar"

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An evaluation of inter and intra population structure of Uttar Pradesh, inferred from 24 autosomal STRs
(Taylor and Francis Ltd., 2022) Ikramul Haque; Shivani Dixit; Akash Kumar; Akshay Kumar; Sunita Verma; Devinder Kumar; Ankit Srivastava; R.K. Kumawat; Divya Shrivastava; Gyaneshwer Chaubey; Pankaj Shrivastava
Aim: The present study was designed to explore the STR diversity and genomic history of the inhabitants of the most populous subdivision of the country. A set of 24 hypervariable autosomal STRs was used to estimate the genetic diversity within the studied population. A panel of 15 autosomal STRs, which is most common in the previously reported data sets, was used to estimate the genetic diversity between the studied population, and obtained unique relations were reported here. Method: The genetic diversity and polymorphism among 636 individuals of different ethnic groups, residing in Bareilly, Pilibhit, Shahjahanpur, Gorakhpur, Jhansi, and Varanasi regions of Uttar Pradesh, India, was investigated. This investigation was carried out via 24 autosomal STRs. Result: The 24 loci studied showed the highest value of combined power of discrimination (CPD = 1), combined power of exclusion (CPE = 0.99999999985), combined paternity index (CPI = 6.10 × 109) and lowest combined matching probability (CPM = 7.90 × 10−31). Conclusion: The studied population showed genetic closeness with the population of Uttarakhand, the Jats of Delhi,the Jat Sikh (Punjab), and the population of Rajasthan. Among the tested loci, SE33 and Penta E were found to be most useful in terms of the highest discrimination power, lowest matching probability, the highest power of exclusion, and highest polymorphism information content for the Uttar Pradesh population. © 2021 Informa UK Limited, trading as Taylor & Francis Group.
Chloroplast derived SSRs reveals genetic relationships in domesticated alliums and wild relatives
(Springer Science and Business Media B.V., 2022) Kuldip Jayaswall; Himanshu Sharma; Abhishek Bhandawat; R. Sagar; Deepanshu Jayaswal; Akash Kumar; Pratibha Chaturvedi; Vijay Mahajan; Sanjay Kumar; Major Singh
Alliums comprise of popular spices and used for various culinary purposes and nutraceuticals. Poor genetic characterization and scarce information regarding domestication, evolution of important alliums like onion, garlic and wild relatives are the major bottleneck to alliums improvement programs. In present study, chloroplast simple sequence repeat (cpSSR) markers were developed from Allium paradoxum plastome to examine the genetic relationships among onion, garlic and wild germplasms. A total of 15 cpSSR markers were used to establish genetic relationships in 18 individuals of alliums, producing 40 alleles ranging from 1 to 6 alleles per SSR locus and polymorphism potential of 100%.Average PIC and heterozygosities was found to be 0.392 and 0.330, respectively. The developed cpSSR significantly assisted the phylogenetic study and evolutionary relationships among various Allium species. In future, these cpSSR markers will be useful for varietal identification, purity testing and genetic improvement of alliums. © 2021, The Author(s), under exclusive licence to Springer Nature B.V.
Cytogenetic profile of aplastic anaemia in Indian children
(2013) Vineeta Gupta; Akash Kumar; Isha Saini; Ajit Kumar Saxena
Background & objectives: Aplastic anaemia is a rare haematological disorder characterized by pancytopenia with a hypocellular bone marrow. It may be inherited/genetic or acquired. Acquired aplastic anaemia has been linked to many drugs, chemicals and viruses. Cytogenetic abnormalities have been reported infrequently with acquired aplastic anaemia. Majority of the studies are in adult patients from the West. We report here cytogenetic studies on paediatric patients with acquired aplastic anaemia seen in a tertiary care hospital in north India. Methods: Patients (n=71, age 4-14 yr) were diagnosed according to the guidelines of International Agranulocytosis and Aplastic Anaemia Study. Conventional cytogenetics with Giemsa Trypsin Giemsa (GTG) banding was performed. Karyotyping was done according to the International System for Human Cytogenetics Nomenclature (ISCN). Results: Of the 71 patients, 42 had successful karyotyping where median age was 9 yr; of these 42, 27 (64.3%) patients had severe, nine (21.4%) had very severe and six (14.3%) had non severe aplastic anaemia. Five patients had karyotypic abnormalities with trisomy 12 (1), trisomy 8 (1) and monosomy 7 (1). Two patients had non numerical abnormalities with del 7 q - and t (5:12) in one each. Twenty nine patients had uninformative results. There was no difference in the clinical and haematological profile of patients with normal versus abnormal cytogenetics although the number of patients was small in the two groups. Interpretation & conclusions: Five (11.9%) patients with acquired aplastic anaemia had chromosomal abnormalities. Trisomy was found to be the commonest abnormality. Cytogenetic abnormalities may be significant in acquired aplastic anaemia although further studies on a large sample are required to confirm the findings.
Development of Allium cepa potential intron polymorphism markers for molecular breeding of Alliums
(Elsevier B.V., 2024) Kuldip Jayaswall; R. Sagar; Deepanshu Jayaswal; Akash Kumar; Surendra Pratap Singh; Romit Seth; Himanshu Sharma; Deepesh Kumar; Vijay Mahajan; Sanjay Kumar; Major Singh
Allium cepa is a widely grown crop for its spice and culinary properties. For molecular breeding of Allium cepa, mining and utilization of various sequence-based markers have been widely reported. Unfortunately, none has reported its molecular breeding using potential intron polymorphism (PIP) markers. Due to advantage of intron positioning prediction and practical utility, the PIP markers used for screening the possible polymorphism and cross-transferability in the Alliums. Screening results showed that among 500 Allium cepa potential intron polymorphism (AcPIP) markers, 275 are cross-transferable and polymorphic. Among the 275 AcPIP, 111 polymorphic markers were physically mapped on to 1st to 8th chromosomes of the Allium cepa. Out of the 275 AcPIP containing functionally significant markers, 118 were mapped in onion with Arabidopsis proteome. A set of 10 Alliums were utilized to interpret the polymorphic possibilities of the 500 AcPIP markers. In totality, 55 % AcPIP markers were polymorphic and cross-transferable among the Alliums. The polymorphic information content (PIC) of AcPIP markers ranged from 0.03 to 0.47 and heterozygosity index (H) varied between 0.16 and 0.80. The constructed phylogenetic tree based on the AcPIP markers of 10 Alliums revealed different clusters due to differences in their taxonomic positions. Out of 275 AcPIP markers, 10 AcPIP markers genotyping based Jaccard dissimilarity-based NJ tree of 96 individuals of Allium cepa showed two distinct groups (high total soluble solid; HTSS and low total soluble solid; LTSS). NJ tree and dissimilarity matrix reveal that group I genotypes are distinct, and dissimilar from group II and III genotypes hence it seems that group II and III genotype evolve from group I genotypes. Further we identified nine diverse Allium cepa subsample among which, genotype number 74 has HTSS and could be used for identification and introgression of HTSS coding genes in elite cultivars. Further DNA fingerprint of Alliums with 20 AcPIP markers suggested geographical reach of the released onion varieties. Hence results suggest that 275 AcPIP markers may be useful for accelerating the breeding programme of the Alliums and other species. © 2023 SAAB
Development of chloroplast derived SSR markers for genus Allium and their characterization in the allies for genetic improvement of Alliums
(Elsevier B.V., 2023) Kuldip Jayaswall; Himanshu Sharma; Deepanshu Jayaswal; R. Sagar; Abhishek Bhandawat; Akash Kumar; Isha Sharma; Pratibha Chaturvedi; Dalasanuru Chandregowda Manjunathagowda; Deepesh Kumar; Vijay Mahajan; Sanjay Kumar; Major Singh
Alliums are the most popular for their culinary usage and nutraceutical benefits. Their production is greatly affected by the multiple biotic and abiotic stresses. Poor characterizations of genetic resources are the major bottleneck in the genetic improvement of Alliums. Chloroplast-derived simple sequence repeat has recently gained much popularity due to their maternal inheritance and low recombination along with their hypervariable nature. In this study, 22 of the 28 chloroplast-derived markers from chloroplast genomes of A. cepa and A. sativum were reported as polymorphic and cross-transferable. Tetra nucleotide repeats were more prevalent (52 %) in these 22 cpSSR markers as compared to other repeat motifs. Further polymorphic information content of these 22cpSSR markers ranged from 0.007 to 0.427. Based on the genotyping of 22cpSSR markers, 25 Alliums were clustered into two groups (groups I, IIA, and IIB). This showed that cultivated Allium cepa and Allium sativum belong to group II rather than the majority of wild Alliums, which belong to group I. Hence This proved the widespread use of these AccpSSR and AscpSSR markers. Additionally, it was clear from 79 Alliums morphological and genotyping-based clustering that these 79 wild Alliums exhibit strong clustering consistency in genotyping and phenotyping-based dendrograms, hence confirming these cpSSR's discrimination potential. Allium tuberosum Rottler ex. Spreng is quite distinct from Allium fistulosum L, A. schoenoprasumas as well as Allium cepa var. aggregatum G.Don. Further Allium fistulosum L, A. schoenoprasum and Allium cepa var. aggregatum are closely related, according to genotyping-based dendrograms of 79 wild Alliums. Hence Allium fistulosum L, A. schoenoprasum, and Allium cepa provide a brilliant opportunity for introgression of the high total soluble content, high quercetin content, and allicin content of cultivated Allium into wild Allium as well as the biotic and abiotic stress tolerance of wild Alliums into cultivated Alliums. Subsequent clustering of 79 Alliums further allowed us to identify diverse Alliums for constructing a core collection. Hence present study will be useful for molecular breeding and genomic selection-based crop improvement. © 2023 SAAB
Dyskeratosis congenita
(2010) Vineeta Gupta; Akash Kumar
Dyskeratosis congenita (DC) is an inheritable bone marrow failure syndrome characterized by reticulated hyperpigmentation, dystrophic nails and oral leukoplakia. Another name for the condition is Zinsser-Cole-Engman syndrome. Hematologic manifestations usually do not appear in childhood but later in early adulthood. Patients are also prone to carcinomas, particularly of the head and neck. The disease has X-linked or autosomal dominant/recessive inheritance. Early childhood variants (Hoyeraal-Hreidarsson syndrome) are associated with immunological abnormalities in the form of low T- and B-cell numbers. Four genes, namely DKC1 (codes for dyskerin), TERC and TERT (code for telomerase) and NOP10, have been implicated in the pathogenesis; the short telomeres provide a marker for genetic linkage studies. Androgens, with or without granulocyte colony stimulating factor, have been tried in the treatment of the conditions with variable results. Stem cell transplantation from matched sibling donor is currently the treatment of choice. It requires modified nonmyeloablative conditioning protocols, since the patients with DC are prone to pulmonary and hepatic complications. © 2010 Landes Bioscience and Springer Science+Business Media.
Epidemiological features of aplastic anemia in Indian children
(Springer India, 2014) Vineeta Gupta; Raghvendra Pratap; Akash Kumar; Isha Saini; Jyoti Shukla
Objectives: To study the socio-demographic profile and clinico- hematological features of aplastic anemia in children presenting at a single institution over 5 y. Methods: Patients below the age of 15 y presenting with features of aplastic anemia were included in the study. Epidemiology, clinico-hematological features and treatment receivedwere recorded in all the cases. Serology for hepatitis A, B, C, E, EBV, parvovirus and HIV was carried out. Cytogenetic studies were available in approximately half of the patients. Results: One hundred eighty five patients were diagnosed with aplastic anemia. Ten patients with inherited bone marrow failure syndrome (IBMFS) were excluded. Median age was 8 y (range 4-14 y) with a male to female ratio of 2.4:1. Pallor (100%) followed by bleeding manifestations (83.8%) and fever (73.5%) were most common presenting symptoms. One hundred twenty patients (70%) were classified as severe, 36 (21%) very severe and 17 (9%) non-severe aplastic anemia. Viral markers for parvovirus, Epstein barr virus and hepatitis were positive in 25.8%, 20% and 6.7% patients respectively. Six patients had history of varicella infection in recent past (within 6 mo). Very few patients (30) could afford immunosuppressive therapy (IST) and had suboptimal response (29.7%). Conclusions: Majority of patients had idiopathic aplastic anemia. Very severe aplastic anemia and severe aplastic anemia were frequent. Few patients received IST and had suboptimal response. There is need to establish a national registry for aplastic anemia. © Dr. K C Chaudhuri Foundation 2013.
Immunosuppressive therapy in aplastic anemia
(2012) Vineeta Gupta; Akash Kumar; Vijai Tilak; Isha Saini; Baldev Bhatia
Objective: To assess the response to antithymocyte globulin based immunosuppressive therapy (IST) in pediatric patients with idiopathic aplastic anemia. Methods: Thirty patients (19 boys and 11 girls) with aplastic anemia received antithymocyte globulin and cyclosporine. Twenty-two patients had severe and 8 had very severe aplastic anemia. Results: Mean age of the patients was 9.19 ± 2.56 y. Three patients died within 1 mo of therapy, two due to sepsis and one due to intracranial hemorrhage. Twenty-seven patients were analyzed for response to therapy. Eight patients (29.7%) responded at 3 mo: 3 complete response (CR) and 5 partial response (PR). Six mo after the therapy, overall response (OR) was seen in 9/27 (33.3%), with one more patient in no response group achieving partial response. At 1 year, patients in CR maintained their status and 1 patient in PR group relapsed. He again achieved partial response with repeat course of ATG. Responders had significantly shorter duration of illness and higher absolute neutrophil count as compared to non responders to IST. None of the patients developed acute leukemia in the follow up. Conclusions: The treatment of aplastic anemia in pediatric patients is a challenging task. One third of the patients achieved overall response which included both complete and partial response. © 2012 Dr. K C Chaudhuri Foundation.
Serum zinc and copper levels in aplastic anemia
(2012) Vineeta Gupta; Akash Kumar; Ravi K. Asthana
Mean serum zinc and copper levels were measured in pediatric patients with idiopathic aplastic anemia. Zinc levels were significantly lower in patients compared to controls and correlated with severity of disease. Serum copper levels were significantly higher in patients. There was no correlation with severity of disease. Cu/Zn ratio also correlated with severity of disease.