Helicobacter Pylori vacA Gene Detection in Saliva of Patients with Upper Gastrointestinal Disorders in Accra, Ghana
Richard H. Asmah,
Timothy Archampong,
Charles A. Brown,
Samuel B. Ntiamoah,
Ebenezer K. Aidoo,
Richard Gyasi,
Edwin K. Wiredu
Issue:
Volume 2, Issue 5, October 2014
Pages:
80-83
Received:
18 June 2014
Accepted:
9 July 2014
Published:
10 November 2014
Abstract: Helicobacter pylori play an essential role in the pathogenesis of upper gastrointestinal disorders. The diagnostic role of the bacterium thus has been a subject of intense investigations. In this study we used an immune-chromatographic method and the polymerase chain reaction (PCR) to detect H. pylori in the saliva of patients with clinically diagnosed upper gastrointestinal disorders. Thirty such patients reporting to the Korle-Bu Teaching Hospital (Accra, Ghana) for upper gastrointestinal endoscopy consented for this study. Saliva samples were collected from each subject and analysed for H. pylori antibodies using a rapid immuno-chromatographic assay and H. pylori DNA by nested PCR using specific primers. Ten (33.3%) out of the 30 samples tested positive for the saliva antibody test with the most prevalent gastrointestinal disorders among the positive subjects being peptic ulcer (60%) followed by gastritis (30%) and esophagitis (10%). Following nested PCR analysis, a 346bp fragment of the vacA (m2) gene region of H. pylori was amplified in 9 (90%) out the 10 samples that were positive by the rapid immuno-chromatographic assay. Saliva samples could serve as a reliable non-invasive alternative to detect the presence of H. pylori infection in synergy with available diagnostic methods in Ghana.
Abstract: Helicobacter pylori play an essential role in the pathogenesis of upper gastrointestinal disorders. The diagnostic role of the bacterium thus has been a subject of intense investigations. In this study we used an immune-chromatographic method and the polymerase chain reaction (PCR) to detect H. pylori in the saliva of patients with clinically diagn...
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Modifier Genes in Hypertrophic Cardiomyopathy Patients of South Indian Cohort
Advithi Rangaraju,
Satyanarayana Matsa.Lova,
Narasimhan Calambur,
Pratibha Nallari
Issue:
Volume 2, Issue 5, October 2014
Pages:
84-91
Received:
25 March 2014
Accepted:
18 April 2014
Published:
10 November 2014
Abstract: Hypertrophic cardiomyopathy is an autosomal dominant disorder, characterized by thickening of the myocardium with a variable clinical course. Mutations in 14 sarcomeric genes have been implicated resulting in phenotypic and genotypic heterogeneity. The phenotypic expression of HCM is not only determined by the sarcomeric gene mutations but the genetic predilection of an individual also account for the inter-individual variability and genes with such functional variants that affect phenotypic expression are referred to as Modifier genes. Hence genetic variants of Angiotensin converting enzyme (ACE-2), Tumor necrosis factor- alpha (TNF-α) and Heat shock protein -70 (HSP70) genes have been considered in the present study to understand their role as modifiers of HCM. The study was carried out by Genotyping of 100 HCM and 100 controls by Polymerase chain reaction based restriction fragment length polymorphism analysis. The present study revealed a significant association of the HSP70-1 and HSP70-2 polymorphisms while ACE-2 and TNF-α genes were found to be statistically insignificant. However patients with the rare/variant genotypes were observed to have stronger clinical manifestations and echocardiographic parameters. This was further confirmed by Linkage disquillibrium analysis wherein individuals with the haplotypes GCGC and GCGT seemed to have increased susceptibility to HCM. The MDR analysis revealed a synergistic interaction of TNF-α with ACE-2 and HSP70 polymorphisms indicating their modifying effect in the presence of other environmental factors. Hence the present study emphasized the role of ACE-2, TNF-α and HSP70 polymorphisms as modifiers of the phenotypic expression in conjunction with other sarcoemric mutations and single nucleotide variations.
Abstract: Hypertrophic cardiomyopathy is an autosomal dominant disorder, characterized by thickening of the myocardium with a variable clinical course. Mutations in 14 sarcomeric genes have been implicated resulting in phenotypic and genotypic heterogeneity. The phenotypic expression of HCM is not only determined by the sarcomeric gene mutations but the gene...
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Non-Syndromic Autosomal Recessive Deafness in Gaza Strip: A Study of Five GJB2 Gene Mutations
Badria F. Essammak,
Mohammed J. Ashour,
Fadel A. Sharif
Issue:
Volume 2, Issue 5, October 2014
Pages:
92-96
Received:
5 November 2014
Accepted:
12 November 2014
Published:
20 November 2014
Abstract: Hearing loss is a common, pan-ethnic and highly heterogeneous sensory disorder with an incidence of around 1 in 1000 infants. Genetic causes are thought to be responsible for more than 60% of the cases with the majority of non-syndromic hearing impairment being inherited in an autosomal recessive pattern. The gene that is most frequently mutated in autosomal recessive non-syndromic hearing loss (ARNSHL) is gap junction protein beta-2 (GJB2) which codes for connexin 26 (Cx26). Cx26 plays a key role in potassium homeostasis, which is essential for sound transduction. The aim of this study was to determine the common GJB2 gene mutations in 70 patients suffering from ARNSHL in Gaza strip. The patients were screened for five GJB2 gene mutations namely, c.35delG, c.167delT, c.-23+1G>A, c.229T>C (p.Trp77Arg) and c.235delC. Study results revealed that GJB2 mutations account for at least 35.7% of the ARNSHL with mutant allele frequency of 0.4%. The most frequently encountered mutation was c.35delG which accounted for 35.7% of the ARNSHL cases in either homozygous (34.3%) or heterozygous (1.4%) form and represented about 80.5% of all the detected mutations. The second most frequent mutation was c.235delC which was found only in heterozygous form. The third mutation was c.-23+1G>A which was identified in only one subject (1.4%) in a compound heterozygous form along with c.35delG. The c.167delT and p.Trp77Arg mutations were not observed in our patients. We conclude that there is a significant contribution of GJB2 mutations to congenital ARNSHL in the Palestinian population of Gaza strip. Screening for GJB2 mutations particularly, c.35delG, c.235delC and c.-23+1G>A should be offered to ARNSHL patients to confirm diagnosis of their congenital deafness, to deliver proper genetic counseling for the affected individuals and their families and to help them benefit from prenatal and pre-implantation genetic diagnosis.
Abstract: Hearing loss is a common, pan-ethnic and highly heterogeneous sensory disorder with an incidence of around 1 in 1000 infants. Genetic causes are thought to be responsible for more than 60% of the cases with the majority of non-syndromic hearing impairment being inherited in an autosomal recessive pattern. The gene that is most frequently mutated in...
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