ABSTRACT
Background: Maharashtrian population is at the risk of cervical cancer (CC) and is not subjected to investigate the cancer susceptibility in association with genetic determinants. Objectives: This study was aimed to evaluate the association of single nucleotide polymorphisms (SNPs) in DNA repair gene xeroderma pigmentosum complementation group D (XPD) with CC risk from rural Maharashtra. Materials and Methods: We used polymerase chain reaction and-restriction fragment length polymorphism to analyze SNPs in XPD gene from 350 patients with CC and 400 age and sex-matched disease-free controls. Results: The results indicated no significant difference in the genotype distribution between CC patients and controls for the XPD gene at codon 156 of exon 6 and codon 751 of exon 23, but the results showed that allele frequencies of XPD Asn 312 of codon 312 of exon 10 (odds ratio = 0.31; 95% confidence intervals = [0.16–0.63]; P = <0.001) genotype showed negative association with CC risk. Conclusion: This study indicated the role of XPD (cd312) in modifying genetic susceptibility of an individual to CC in Maharashtrian patients.
ABSTRACT
Purpose: The aim of the study was to determine the genetic heterogeneity of Giardia intestinalis isolates detected in stool samples of the study population using polymerase chain reaction assay and restriction fragment length polymorphism. We also tried to correlate the association/differences between the clinical symptomatology and infection by different assemblages (genotypes) of G. intestinalis. Materials and Methods: This cross-sectional study was conducted from April 2008 to June 2010. A total of 40 adults (n = 40) and 42 children (n = 42) below the age of 12 years with the clinical suspicion of giardiasis and with the onset of one or more of the following fi ve symptoms, i.e., loose stool, nausea, weight loss, fatigue and foul smelling faeces and confi rmed laboratory diagnosis of giardiasis at least once during the current episode of diarrhoea were included in this study. Results: Of the 82 patients (males 66) enrolled in the study, 70 (85%) presented with diarrhoea (56 males) and 12 (15%) without diarrhoea (10 males). Out of 70 diarrheic patients, 61 (87%) had chronic diarrhoea, 8 (11.5%) had acute diarrhoea and 1 (1.5%) had persistent diarrhoea. Of the total patients, 63 (77%) were clinically assessed and were apparently immunocompetent, whereas, 19 (23%) immunocompromised patients had different underlying conditions besides giardiasis. Genotyping identifi ed all 82 (100%) isolates as assemblage B. Conclusion: We found that assemblage B of G. intestinalis presents with all kinds of clinical features ranging from asymptomatic carriage to acute, persistent or chronic diarrhoea.
ABSTRACT
Objective To study the relationship between single nucleotide polymorphisms(SNPs)of thrombospondin-1 gene(TSP-1)and coronary artery disease(CAD).Methods Fragment 8831A→G of Exon thirteen in TSP-1 gene from 437 cases of CAD and 423 subjects without coronary heart disease from November 2003 to May 2007 in The First Affiliated Hospital of Nanjing Medical University and Affiliated Yueyang Hospital of Shanghai Traditional Chinese Medicine University were analysed by polymerase chain reaction and restriction fragment length polymorphism(PCR-RFLP),and sequence analysis for confirmation.Results The prevalence of the 8831G in the 860 subjects was rare.No association of the N700S polymorphism with an altered risk of ACS was found in our study (GA VS AA:OR=1.699;95%CI 0.309-9.348,P＞0.05).Conclusion The TSP-1 8831A→G polymorphism is rare and unrelated to CAD in the Chinese Han population.
ABSTRACT
Objective This study investigated into the relationship between single nucleotide polymorphisms(SNPs)of thrombospondin-1 gene(TSP-1)and acute coronary syndrome(ACS).Methods From Nov.2003 to Sep.2005,fragment of exon thirteen in TSP-1 gene from 323 cases of ACS and 273 subjects without coronary heart disease were analysed by polymerase chain reaction and restriction fragment length polymorphism,and sequence analysis was done for confirmation in the First Affiliated Hospital of Nanjing Medical University.Results Of the 596 subjects participating in the study,only 6 of the heterozygotes and none of the homozygotes were detected for the 700S allele.The prevalence of the 8831G in the healthy controls was less frequent than those of the west populations(0.4%vs 11%,P