Co-Inheritance of Beta &Delta-Globin Gene (HbYialousa) Mutations in an Iranian <i>β</i>-Thalassemia Carrier

Introduction: Beta-thalassemia is characterized by absence or reduced synthesis of the β-globin. Carriers of β-thalas- semia, typically have microcytic hypochromic anemia and elevated hemoglobin HbA2 and normal HbF level. On the other hand carriers of severe alpha-thalassemia also have similar CBC parameters to that of β-thalassemia with normal HbA2 level. Co-presence of mutations in the β-globin and delta-globin genes (point mutations or deletions) usually give normal HbA2 and elevated HbF level. We report a β-thal carrier with normal level of HbA2 and increased level of HbF who had a point mutation in CD39 on the beta-globin gene and a point mutation in CD27 on the δ-globin gene named Hb-Yialousa. Materials & Methods: An individual with low hematological indices, normal HbA2 and elevated HbF was referred to our center as routine premarital screening program. Mutations in the β-globin and δ-globin genes were screened using ARMS and sequencing methods. Results: The mutation in β- and δ-globin genes were identified as CD39 and CD27 (HbYialousa) respectively. No point mutation or deletion in α-globin gene was identified. Discussion: We showed that normal HBA2 with elevated HbF level is due to co-inheritance of delta-globin gene mutation with mutation in the β-globin gene. When screening for β-thalassemia, one has to either rule out presence of α-globin gene mutation of mutation in the delta-globin gene.

Autozygosity Mapping by Genome-wide Single Nucleotide Polymorphism Array Identifies a Novel Homozygous HR Mutation in a Consanguineous Family with Universal Hereditary Hair Loss

Objective:Isolated hereditary hypotrichosis is caused by mutations in as many as 11 different genes.The conventional mutation detection strategy consists of sequencing of individual candidate genes separately,a time consuming and costly approach.In this study,we perform genome-wide single nucleotide polymorphism(SNP)array to identify candidate genes of hereditary hypotrichosis.Methods:A consanguineous family with two patients with hereditary hypotrichosis was enrolled,and autozygosity mapping by genome-wide SNP array was utilized to identify candidate genes.Results:Autozygosity mapping delineated runs of homozygosity,and alignment of the 11 genes identified the hairless(HR)gene as the candidate gene.Nucleotide sequencing revealed a novel homozygous mutation c.381delT,p.Ser127ArgfsTer40.Conclusion:This study illustrates how autozygosity mapping by a high-density SNP array streamlines mutation detection in heritable skin diseases.

Using the IrisPlex System for Eye Color Prediction on Skeletal Remaining from the Past 30 Years

One of the first tasks following humanitarian disasters is to identify the victims.DNA analysis of ancient skeletal remains is also important in forensic science.Recently,externally visible characteristics(EVCs)based polymorphism profile has provided forensic studies with greater speed and accuracy.In this study,eye color prediction based on IrisPlex single nucleotide polymorphisms(SNPs)on skeletal samples was evaluated.IrisPlex predictor SNPs(HERC2-rs12913832,OCA2-rs1800407,SLC45A2-rs16891982,TYR-rs1393350,SLC24A4-rs12896399,and IRF4-rs12203592)of 12 forensic samples were analyzed by capillary electrophoresis(SNaPshot method).Our primary results showed that eye color prediction was accurate(8 dark,3 blue,and 1 intermediate).The prediction of dark and blue eye colors could be suitable from ancient DNA provided from remain skeletal samples using only IrisPlex system,based on our results,IrisPlex system is a suitable method for the prediction of dark and blue eye color.All dark and blue eye color samples were fairly correctly predicted(sensitivity:95%and specificity:90%),however,intermediate eye color prediction needed a more informative SNP assay to predict all variations of eye colors.Finally,we concluded that the use of EVCs to identify eye color using skeletal remains is a suitable method and could be recommended for future forensic research.

Oncolytic viruses:A novel treatment strategy for breast cancer

Breast cancer,an unceasingly occurring neoplasm,is one of the major determinants of mortality in women.Several ineffective attempts have been pursued using with conventional therapies against breast cancer.Resistance to existing therapies and their respective debilitating adverse effects have led research toward a new era of cancer treatment using viruses.Virotherapy constitutes a developing treatment modality with multiple mechanisms of therapeutic activity in which the viruses can be directly oncolyticand can express transgenes or induce host immune response against tumor cells.Several different DNA-and RNA-containing viruses have been considered for virotherapy of breast cancer including adenovirus,herpes virus,vaccinia,reovirus,Newcastle Disease virus,measles virus and vesicular stomatitis virus.This review aims to summarize the viro-therapeutical agents against breast malignancies.Key Scientific Concepts of Review:In this review paper,we proposed a new strategy to virus's combinatorial treatments using several kinds of transgenes and drugs.These recombinant viruses have provided evidence of treatment efficacy against human breast cancer.