BACKGROUND Mutations in the parkin gene cause autosomal recessive early-onset Parkinson disease (EOPD). The A265G variant in the HS1 binding protein 3 gene (HS1BP3) is common in essential tremor (ET). OBJECTIVE To investigate the presence of mutations in the parkin gene and the A265G variant in the HS1BP3 gene in a Mexican family with EOPD, ET, and Bell palsy. DESIGN Direct sequencing, semi...

conclusions congenital hyperinsulinism can have different inheritance pattern. autosomal recessive inheritance is more common but less frequently autosomal dominant inheritance can be seen. it appears that mutations in abcc8 gene can show both autosomal recessive and autosomal dominant inheritance of the disease. pcr followed by sanger sequencing proved to be an efficient method for mutation de...

We systematically compared cytokinemediated increasesordecreases inproliferation with globin gene and protein expression in adult human erythroblasts. Despite their opposite effects on growth, stem cell factor (SCF) and transforming growth factorbeta (TGF-B) had synergistic effects with respect to fetal hemoglobin (HbF): average HbF/HbF adult hemoglobin (HbA) ratio in erythropoietin (EPO) 1.4 1...

results all eight candida species were successfully detected, identified and quantitated based on the icl gene. a seven-log range of the gene copy number and a minimum detection limit of 103 copies were achieved. conclusions a one-tube absolute quantification real-time pcr that differentiates medically important candida species via individual unique melting temperature was achieved. analytical ...

Many human globin-chain mutants contain amino acid replacements that result from single base changes in the corresponding globin gene. Using recombinants, the coding sequences of each of the alpha-, beta-, Ggamma-, and Agamma-globin genes have now been determined. Those sequences of DNA that are cleaved by a number of specific restriction endonucleases have been identified and accurately positi...

background: factor v g1691a (fv leiden), fii ga20210, and methylenetetrahydrofolate reductase (mthfr) c677t mutations are the most common genetic risk factors for thromboembolism in the western countries. however, there is rare data in iran about cerebral venous and sinus thrombosis (cvst) patients. the aim of this study was to evaluate the frequency of common genetic thrombophilic factors in c...

Sickle cell disease is characterized by a very heterogeneous clinical course among patients with the same mutations for sickle hemoglobin (HbS). anemia (SCA) hereditary hemoglobinopathy caused homozygosity of point mutation in beta-globin gene, which leads to substitution glutamic acid valine sixth position.

Purpose ß-thalassemia is a hereditary disorder due to mutation in the ß-globin gene on chromosome 11. Out of 200 known chain mutations recognized, it better identify most common specific regions and ethnicity for cost-effective molecular diagnosis this disorder. Therefore, study aims practice multiplex-amplification refractory system (ARMS) PCR patients with thalassemia Khyber Pakhtunkhwa (KP) ...