Open Access DOI:10.23937/2378-3648/1410006
Identification of Ten Novel Mutations in Factor VIII Gene: A Study of A Cohort of 52 Haemophilia A Patients
Rosa Santacroce, Angelica Leccese, Roberta Trunzo, Giuseppe Lassandro, Paola Giordano, Cosimo Ettorre, Stefano Antoncecchi, Isabella Cantori, Alfredo Dragani, Donata Belvini, Roberta Salviato and Maurizio Margaglione
Article Type: Research Article | First Published: October 14, 2014
Introduction: Haemophilia A (HA) is the most common X-linked recessive genetic disease caused by mutations in the gene coding for coagulation factor VIII (FVIII) resulting in spontaneous bleeding.
Aim: The aim of our study is to provide additional information about the genetic causes of HA describing the correlation between the observed mutations and the clinical phenotype in a cohort of 52 patients suffering from HA to different degrees.
Methods: First we performed a search of inversion 22 ...
Open Access DOI:10.23937/2378-3648/1410005
Aspergillus flavus Blast2GO Gene Ontology Database: Elevated Growth Temperature Alters Amino Acid Metabolism
Perng-Kuang Chang and Leslie L. Scharfenstein
Article Type: Research Article | First Published: October 05, 2014
The availability of a representative Gene Ontology (GO) database is a prerequisite for a successful functional genomics study. Using the online Blast2GO tool we constructed a GO database of Aspergillus flvus, a plant and human pathogen. Of the predicted total 13,485 A. flvus genes 8,987 were annotated with GO terms. The mean GO level was 5.64. Using a low stringency setting of a sequence cut-off number of 10 and a node score of 20, we obtained 1,177 GO terms associated with biological process, 3...
Open Access DOI:10.23937/2378-3648/1410004
Replacing CFTR Sanger Sequencing in the Clinical Lab with a Reliable, Targeted Next-Generation Sequencing Assay
Shela Lee, Joy Radecki, Hsiao-Mei Lu, and Aaron M. Elliott
Article Type: Research Article | First Published: October 05, 2014
The clinical implementation of new target enrichment methods and next-generation sequencing (NGS) technology has rapidly transformed genetic testing. Diagnostic labs can now offer a wide variety of large comprehensive multi-gene panels or even full exome sequencing to help clinicians diagnose and treat patients. The unmatched sensitivity, accuracy and throughput of NGS compared to traditional Sanger sequencing make it an ideal technology not only for panels but also high volume single gene assay...
Open Access DOI:10.23937/2378-3648/1410003
Correlation of Killer Immunoglobulin like Receptor Genes with the Rate of Cytomegalovirus Infection in Renal Transplantation Cases
Tejendra Singh Chauhan, Swayam Prakash, Raj Kumar Sharma and Suraksha Agrawal
Article Type: Research Article | First Published: October 04, 2014
Aim: Immune mechanisms of Cytomegalovirus (CMV) infection suggest a possible relationship between CMV with development of acute graft rejection. Current immune suppression impairs antiviral specifi T-cell immunity in solid organ transplantation. Inhibitory/ activating NK receptor bindings activated by self HLA antigens confront allogeneic cells that lack a ligand for specifi receptor. KIR ligand incompatibility caused due to presence/absence of KIR receptor in recipient and corresponding HLA lig...
Open Access DOI:10.23937/2378-3648/1410002
Association of XmnI (-158 γG) Polymorphism and Response to Hydroxyurea in Omani S/S and S/β Patients
Hassan SM, Al Muslahi M, Al Riyami M, Bakker E, Harteveld CL and Giordano PC
Article Type: Research Article | First Published: September 26, 2014
Objective: To describe the effect of Hydroxyurea (HU) treatment in Omani Sickle Cell Disease (SCD) patients with different beta-globin gene cluster haplotypes.
Materials and methods: A total of 52 cases treated with HU were enrolled in this study. Response to the drug was compared between patients with and without the XmnI polymorphism in the different betaglobin gene cluster haplotypes. We have classified our cohort into three categories: good responders to HU for those patients who had no cr...
Open Access DOI:10.23937/2378-3648/1410001
Extremely High Carrier Frequency of the GJB2 Splice Site IVS1+1G>A Mutation in Eastern Siberia is Comparable to the Carrier Frequency of the Sickle Cell Anemia in Africa
Nikolay A. Barashkov, Aisen V. Solovyev, Fedor M. Teryutin, Vera G. Pshennikova1, Leonid A. Klarov, Georgii P. Romanov, Sergey S. Nakhodkin, Kyunney E. Savvinova, Nyurgun N. Gotovtsev, Natalya A. Solovyeva, Andrei A. Kozhevnikov, Lena M. Vasilyeva, Elvira E. Fedotova, Maria V. Pak, Sargylana N. Lekhanova, Elena V. Zakharova, Adyum M. Rafailov, Nikolay V. Luginov, Anatoliy N. Alexeev, Olga L. Posukh, Lilya U. Dzhemileva, Elza K. Khusnutdinova and Sardana A. Fedorova
Article Type: Research article | First Published: September 01, 2014
This study presents data on the carrier frequencies of IVS1+1 G>A mutation in GJB2 gene, causing by autosomal recessive form of deafness among various ethno-geographical groups of Yakut population and in a random sample of the Yakuts. 350 DNA samples of hearing individuals from various ethno-geographical groups of Yakut population: Central (n=60), Vilyui (n=60), Northern (n=60) and random samples of Yakuts (n=170) were obtained from the DNA Bank of the Department of Molecular Genetics of Yakut R...
