Uma B Dasgupta

University of Calcutta, Calcutta, Bengal, India

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Publications (19)43.63 Total impact

  • Article: The microRNA hsa-miR-503 inhibits growth of K562 cell line.
    Papai Roy, Uma B Dasgupta
    Blood Cells Molecules and Diseases 04/2013; 50(4):271-2. · 2.35 Impact Factor
  • Article: Influence of BCL11A, HBS1L-MYB, HBBP1 Single Nucleotide Polymorphisms and the HBG2 XmnI Polymorphism On Hb F Levels.
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    ABSTRACT: In search of genetic alterations responsible for high fetal hemoglobin (Hb F) phenotypes in the population of eastern India, 91 probands were screened for four polymorphisms by sequencing and/or restriction fragment length polymorphism (RFLP) analysis. These are the A>G allele on the rs4895441 locus in the intergenic region between HBS1L and MYB on chromosome 6, the G>A allele on the rs4671393 locus on chromosome 2 (BCL11A gene), the A>C allele on the rs2071348 (HBBP1 gene) and the XmnI polymorphism (rs7482144, -158 position of HBG2) on chromosome 11. We found a significant association (p = 0.002 and 0.0013) of Hb F levels with rs2071348 and rs4895441, respectively. However, the polymorphism rs4671393 gene did not show significant association with Hb F levels (p = 0.0655). As is well known, the XmnI polymorphism (p <0.0001) showed the strongest association.
    Hemoglobin 10/2012; · 1.30 Impact Factor
  • Article: hsa-miR-503 Is Downregulated in β Thalassemia Major.
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    ABSTRACT: No abstract available.
    Acta Haematologica 08/2012; 128(3):187-189. · 1.35 Impact Factor
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    Article: GST polymorphic status modifying the arsenic induced clinical manifestations in people of the southern part of West Bengal, India
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    ABSTRACT: Persons chronically exposed to environmental arsenic through their drinking water experience various arsenic induced clinical manifestations which includes keratosis and pigmentary changes in the skin. However the response varies widely among persons. To study whether Glutathione-S-Transferase (GST) gene polymorphism plays any role in this variation, a total of 78 study subjects were recruited from the villages of southern region of West Bengal, India. Concentration of arsenic in their urine and drinking water were determined by Atomic Absorption Spectrophotometry Hydride Generation (AAS) system. Extent of clinical manifestations in the form of pigmentation and keratosis were determined by evaluation of the severity and giving clinical symptom score according to their degree of severity. The individual's GST status was determined by multiplex PCR approach. The persons having skin manifestation given a score called clinical symptom score by which the degree of the clinical manifestation was determined. Results showed that genetic polymorphism of GSTM1 and T1 were significantly associated with urinary arsenic and clinical manifestation in higher exposure group. Persons having null genotype have significantly decreased urinary arsenic (p< 0.01) and increased clinical symptom (p<0.05) score relative to persons with GSTM1 or GST T1 non-null genotype of same arsenic exposure group. The study signifies that GST status determines the extent of biotransformation of arsenic in the body which further determines the degree of arsenic induced clinical manifestations in exposed persons.
    Journal of Toxicology and Environmental Health Sciences. 07/2011; 3:171-175.
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    Article: Deletional mutations of dystrophin gene and carrier detection in eastern India.
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    ABSTRACT: To determine the pattern of deletions of the dystrophin gene, the major class of mutations among the Duchenne and Becker muscular dystrophy patients of eastern India and to analyze the carrier frequency of the female members of the proband's family. Deletional mutations occurring in patients have been characterized by multiplex polymerase chain reaction. Carrier state of mothers and sisters of probands were analyzed by either of two methods: 1) typing polymorphic short tandem repeat markers in or around the regions of deletion, by radioactive polymerase chain reaction and 2) quantitative real time amplification of the region of deletion. Deletions were detected in 67 (62.04%) out of 108 male patients, about 76.12% of these being localized in the central hot spot region of the gene, i.e., between exon 42 to exon 53 and 17.91% at the proximal hot spot i.e., between exon 1 to exon 20. In the present study were found 43 types of deletions, out of which 25 (58%) were new deletions, which were not described earlier among the Indian patients. Distribution pattern of deletions in different hot spot regions has been compared with that of other countries and statistical analysis reveals significant difference between countries (p<0.001). Correlation of the pattern of deletion with clinical phenotype of patients has been discussed. Interesting case of germline mosaicism and its implications in counseling has also been discussed. About half the mothers of affected probands were not carriers of the deletion, underscoring the need to use real time techniques for carrier detection.
    The Indian Journal of Pediatrics 10/2009; 76(10):1007-12. · 0.52 Impact Factor
  • Article: Arsenic exposure induces genomic hypermethylation.
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    ABSTRACT: Gene-specific hypermethylation has previously been detected in Arsenic exposed persons. To monitor the level of whole genome methylation in persons exposed to different levels of Arsenic via drinking water, DNA was extracted from peripheral blood mononuclear cells of 64 persons. Uptake of methyl group from (3)H labeled S-Adenosyl Methionine after incubation of DNA with SssI methylase was measured. Results showed statistically significant (P = 0.0004) decrease in uptake of (3)H methyl group in the persons exposed to 250-500 microg/L arsenic, indicating genomic hypermethylation.
    Environmental Toxicology 06/2009; 25(3):315-8. · 2.41 Impact Factor
  • Article: Methylation status of promoter-associated CpG islands in primary acute myeloid leukemia.
    Acta Haematologica 02/2009; 120(4):207-10. · 1.35 Impact Factor
  • Article: Hb Sallanches [alpha104(G11)Cys-->Tyr, TGC>TAC] occurs frequently on the Indian subcontinent.
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    ABSTRACT: Point mutations of alpha-globin genes in homozygous or in compound heterozygous states cause severe alpha-thalassemia (alpha-thal). Here we describe a polymerase chain reaction-restriction fragment length polymorphism-based method for easy detection of the point mutation Hb Sallanches [alpha104(G11)Cys-->Tyr, TGC>TAC], earlier detected by a sequencing technique. In a cohort of 104 unrelated putative alpha-thal patients, nine carried the mutation and two were homozygotes. The mutation occurred on both the alpha2- or alpha1-globin genes. The phenotypes, in conjunction with other point mutations or deletions, are presented. Earlier detected in Pakistan and Punjab of India, it is probably present all over the Indian subcontinent.
    Hemoglobin 01/2009; 33(6):486-91. · 1.30 Impact Factor
  • Article: Molecular basis of deletional hereditary persistence of fetal hemoglobin and deltabeta-thalassemia in Indian patients.
    Clinica Chimica Acta 07/2008; 392(1-2):69-70. · 2.54 Impact Factor
  • Article: Association of cytochrome P450, glutathione S-transferase and N-acetyl transferase 2 gene polymorphisms with incidence of acute myeloid leukemia.
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    ABSTRACT: The objective of the paper was to study the association of polymorphisms of phases I and II xenobiotic metabolizing enzyme genes cytochrome P450 (CYP-4501A1*2A, *2B, *2C and *4 alleles, CYP-4502D6*4 allele), glutathione-S-transferase (GSTM1 and GSTT1 null genotypes) and N-acetyl transferase 2 (NAT2*6B and *7A alleles) with the incidence of acute myeloid leukemia (AML) in an eastern Indian population. Polymerase chain reaction and restriction fragment length polymorphism of genomic DNA from peripheral blood cells were used to detect CYP-450 and NAT2 gene polymorphisms in 110 AML patients and 144 racially and geographically matched normal controls. Polymerase chain reaction was also applied to detect GST gene polymorphisms in both groups. A statistically significant difference between the AML group and the normal group was observed in the case of glutathione-S-transferase M1 null (odds ratio 3.25, 95% confidence interval 1.9-5.58, P<0.001) and N-acetyl transferase 2*6B (odds ratio 3.04, 95% confidence interval 1.79-5.16, P<0.001) genotypes. Combined deficiency of N-acetyl transferase 2 and glutathione-S-transferase M1 genes produced an odds ratio of 11.91 (95% confidence interval 4.06-34.96, P<0.001). The effect of N-acetyl transferase 2*6B (P<0.001) is significant only at ages <or=40. In the population studied, persons with glutathione-S-transferase M1 null genotype and N-acetyl transferase 2*6B allele are at increased risk of developing AML, and the risk is considerably enhanced in persons with both glutathione-S-transferase M1 and N-acetyl transferase 2 deficiency.
    European journal of cancer prevention: the official journal of the European Cancer Prevention Organisation (ECP) 04/2008; 17(2):125-32. · 2.21 Impact Factor
  • Article: Polymerase chain reaction-based search for two alpha-globin gene mutations in India.
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    ABSTRACT: We have used restriction site-dependent polymerase chain reaction (PCR)-based methodology for detection of the alpha-globin polyadenylation (poly A) signal mutation, AATAAA>AATA- - and Hb Sun Prairie [alpha 130(H13)Ala-->Pro, GCT>CCT (alpha2)] mutation. The former mutation produces Hb H disease in the homozygous state and occurs frequently in the Indian population. It was detected in nine of 77 putative alpha-thalassemia (alpha-thal) patients and in three of 13 beta-thal intermedia patients tested. Four of the nine alpha-thal patients were homozygotes for the mutation. The Hb Sun Prairie mutation was confirmed in two alpha-thal patients, one of whom was a homozygote and the other a heterozygote.
    Hemoglobin 01/2008; 32(5):485-90. · 1.30 Impact Factor
  • Article: Molecular profiling of chronic myeloid leukemia in eastern India.
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    ABSTRACT: Molecular breakpoint of the BCR-ABL fusion gene has been characterized for 122 chronic myeloid leukemia patients. Out of 122 cases, 33 b2a2, 69 b3a2, 2 e1a2, and 2 e19a2 cases have been detected. Six coexpressed both b2a2 and b3a2 transcripts. All the coexpressing samples had an A>G polymorphism at the putative splice branchpoint in intron 13. The T>C polymorphism in exon 13, reported to be linked to coexpression, was not present in all the coexpressing patients. No correlation of transcript type with platelet count was detected. Those expressing b2a2 transcript were diagnosed at relatively younger age and with higher white blood cell count, in agreement with other reports. However, the correlation was not statistically significant.
    American Journal of Hematology 11/2006; 81(11):845-9. · 4.67 Impact Factor
  • Article: Analysis of dystrophin gene deletions by multiplex PCR in eastern India.
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    ABSTRACT: The most common genetic neuromuscular disease of childhood, Duchenne and Becker muscular dystrophy (DMD/BMD) is caused by deletion, duplication or point mutation of the dystrophin gene located at Xp 21.2. In the present study DNA from seventy unrelated patients clinically diagnosed as having DMD/BMD referred from different parts of West Bengal, a few other states and Bangladesh are analyzed using the multiplex polymerase chain reaction (m-PCR) to screen for exon deletions and its distribution within the dystrophin gene. Out of seventy patients forty six (63%) showed large intragenic deletion in the dystrophin gene. About 79% of these deletions are located in the hot spot region i.e, between exon 42 to 53. This is the first report of frequency and distribution of deletion in dystrophin gene in eastern Indian DMD/BMD population.
    Neurology India 10/2006; 54(3):310-1. · 0.96 Impact Factor
  • Article: DNA hypermethylation of promoter of gene p53 and p16 in arsenic-exposed people with and without malignancy.
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    ABSTRACT: Chronic arsenic exposure is known to produce arsenicosis and cancer. To ascertain whether perturbation of methylation plays a role in such carcinogenesis, the degree of methylation of p53 and p16 gene in DNA obtained from blood samples of people chronically exposed to arsenic and skin cancer subjects was studied. Methylation-specific restriction endonuclease digestion followed by polymerase chain reaction (PCR) of gene p53 and bisulfite treatment followed by methylation-sensitive PCR of gene p16 have been carried out to analyze the methylation status of the samples studied. Significant DNA hypermethylation of promoter region of p53 gene was observed in DNA of arsenic-exposed people compared to control subjects. This hypermethylation showed a dose-response relationship. Further, hypermethylation of p53 gene was also observed in arsenic-induced skin cancer patients compared to subjects having skin cancer unrelated to arsenic, though not at significant level. However, a small subgroup of cases showed hypomethylation with high arsenic exposure. Significant hypermethylation of gene p16 was also observed in cases of arsenicosis exposed to high level of arsenic. In man, arsenic has the ability to alter DNA methylation patterns in gene p53 and p16, which are important in carcinogenesis.
    Toxicological Sciences 03/2006; 89(2):431-7. · 4.65 Impact Factor
  • Article: A novel 33.3 kb deletion (- -KOL) in the alpha-globin gene cluster: a brief report on deletional alpha-thalassaemia in the heterogeneous eastern Indian population.
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    ABSTRACT: We have detected, in three unrelated eastern Indian individuals, a hitherto unreported alpha zero deletion, - -KOL, in the heterozygous state, encompassing the embryonic zeta2-globin and the duplicated alpha-globin genes extending from c. 1150 bp upstream of the zeta2 globin gene to c. 960 bp downstream of the theta1 gene. Other deletions present in 120 unrelated, eastern Indian, putative alpha-thalassaemia patients are -3.7 kb (16.25%), -4.2 kb (5%) and - -SEA (3.33%).
    British Journal of Haematology 09/2005; 130(3):454-7. · 4.94 Impact Factor
  • Article: Two beta-globin cluster-linked polymorphic loci in thalassemia patients of variable levels of fetal hemoglobin.
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    ABSTRACT: To correlate different polymorphisms of the beta-globin cluster with fetal hemoglobin (HbF) level in beta-thalassemia and E-beta thalassemia patients. Fifteen thalassemia patients, seven with high HbF and not requiring transfusion, eight with lower HbF and requiring transfusion were studied for beta-globin mutation, concurrent inheritance of alpha-thalassemia, RFLP haplotype, a C-->T polymorphism at -158 of Ggamma and configuration of an (AT)(x)T(y) motif at -540 of beta-globin gene. Senegal 5'beta-haplotype and the polymorphism at -158 of G(gamma) was (P = 0.063) was linked to the high-HbF phenotype but the (AT)(9)T(5) configuration of the (AT)(x)T(y) motif was not (P = 0.6). Study of 30 chromosomes revealed 7 different configurations of the (AT)(x)T(y) motif. Association of these motifs with specific beta-globin mutations of this region has also been determined. The senegal haplotype and the polymorphism at -158 of G(gamma) was linked to the high-HbF phenotype.
    European Journal Of Haematology 08/2005; 75(1):47-53. · 2.61 Impact Factor
  • Article: Co-inheritance of the Hb Sun Prairie mutation with a point mutation at 5'-UTR in the eastern Indian population.
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    ABSTRACT: Haemoglobin (Hb) Sun Prairie (alpha2-globin cd130, GCT-->CCT, Ala-->Pro) is detected in three unrelated chromosomes, in association with a C-->T transition in the 5'-untranslated region (UTR), two bases upstream from the translation start site. Reported inversion of alpha/beta-mRNA ratio observed in Hb Sun Prairie mutants might stem from the second mutation and should be investigated. Molecular modelling studies indicate that the 130th residue of alpha-globin faces primarily the central cavity of the molecule and is not in contact with any beta-chain residue; further, no significant disruption of the Hb structure because of the Sun Prairie mutation is discernible. Depression of translation because of the second mutation of a conserved base in the 5'-UTR might explain the observed clinical severity.
    British Journal of Haematology 04/2005; 129(2):282-6. · 4.94 Impact Factor
  • Article: Profile of beta-thalassemia in eastern India and its prenatal diagnosis.
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    ABSTRACT: To control the birth of thalassemic children in India. Mutations present in the population of eastern India and in carrier parents seeking prenatal diagnosis were detected by the PCR-based technique of ARMS (amplification refractory mutation system) or gap-PCR. To screen for maternal tissue contamination in CVS, haplotypes associated with the beta-globin gene clusters were constructed using six polymorphic restriction sites. Prenatal diagnosis was accomplished by checking presence of parental mutation in the DNA from chorionic villus sampling (CVS) collected at 8 to 10 weeks' gestation by appropriate technique. Six hundred and fifty (650) unrelated beta-thalassemia chromosomes were screened for 11 common mutations to characterize the mutation distribution in this population. Starting from early 2000, 63 families from different parts of West Bengal and from surrounding areas have been offered prenatal counseling for beta-thalassemia. The population of this region is conscious and willing to accept prenatal diagnosis as a means of control of thalassemia.
    Prenatal Diagnosis 01/2005; 24(12):992-6. · 2.11 Impact Factor
  • Article: Profile of β‐thalassemia in eastern India and its prenatal diagnosis
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    ABSTRACT: Objective To control the birth of thalassemic children in India.Methods Mutations present in the population of eastern India and in carrier parents seeking prenatal diagnosis were detected by the PCR-based technique of ARMS (amplification refractory mutation system) or gap-PCR. To screen for maternal tissue contamination in CVS, haplotypes associated with the β-globin gene clusters were constructed using six polymorphic restriction sites. Prenatal diagnosis was accomplished by checking presence of parental mutation in the DNA from chorionic villus sampling (CVS) collected at 8 to 10 weeks' gestation by appropriate technique.ResultsSix hundred and fifty (650) unrelated β-thalassemia chromosomes were screened for 11 common mutations to characterize the mutation distribution in this population. Starting from early 2000, 63 families from different parts of West Bengal and from surrounding areas have been offered prenatal counseling for β-thalassemia.Conclusion The population of this region is conscious and willing to accept prenatal diagnosis as a means of control of thalassemia. Copyright © 2004 John Wiley & Sons, Ltd.
    Prenatal Diagnosis 12/2004; 24(12):992 - 996. · 2.11 Impact Factor