BACKGROUND Chagas disease patients with longstanding megaesophagus have a significantly increased risk for esophageal carcinoma. MATERIALS AND METHODS PCR-SSCP analysis and DNA sequencing of esophageal mucosa from Chagas disease patients (with or without megaesophagus) in the exons of the TP53, CDKN2A and FHIT genes were performed. RESULTS SSCP analysis showed a mobility shift in 2/20 patie...

OBJECTIVE To diagnose a Chinese benign familial neonatal convulsions (BFNC) family at the level of gene and investigate its molecular pathogenesis. METHODS All family members were studied by clinical examinations and linkage analysis. Mutation analysis of KCNQ2 gene was made by means of polymerase chain reaction (PCR)-direct sequencing and PCR-single strand conformation polymorphism (SSCP) in...

The Nramp1 (Natural resistances macrophage protein1) gene or recently renamed Slc11a1 (solute carrier family 11 member1) is a member of a large family of genes coding for metal ion-transporting proteins. Nramp1 gene plays a critical role in innate immunity favoring bacterial killing by macrophages in addition to its influence on adaptative immunity. The aim of the present investigation was to i...

Aptamers are specific binding nucleic acids that emerge from in vitro selection. During the systematic evolution of ligands by exponential enrichment (SELEX) procedure, analysis of the sequences of the numerous selected individual molecules becomes an important step in the final stage of aptamer selection. The sequencing of cloned aptamers from the selected pool generally reveals groups of iden...

hearing loss (hl) is the most frequent sensory defect affecting 1 in 1000 neonates. this can occur due to genetic or environmental causes or both. the genetic causes are very heterogenous and over 100 loci have been identified to cause autosomal recessive non - syndromic hearing loss (arnshl). the aim of this study was to determine the contribution of the lrtomt gene mutations in causing arnshl...

In this study, we identified a variable region in the C-terminus of hemocyanin from the shrimp Litopenaeus vannamei (2288-2503bp, HcSC) by sequence alignments. A total of 13 SNPs were identified by PCR-SSCP and HcSC clone sequencing. The SSCP patterns of HcSC could be modulated in Vibro parahaemolyticus-treated shrimps. A novel SSCP band with four SNP sites was identified in V. parahaemolyticus...

Recent and future advances in population genetics will have a significant impact on health care practices and the economics of health care provision only if a spectrum of patient-tailored, effective methods of DNA screening for sequence alterations has been developed. Genetic screening by capillary electrophoresis-single strand conformation polymorphism (CE-SSCP), which is based upon the differ...

This study was conducted to assess the potential association between leptin (LEP) gene polymorphisms and type 2 diabetes mellitus (T2DM) in Iraqi patients. Genomic DNA extracted from 120 diabetic subjects 100 controls. Three specific PCR fragments were designed flank three highly frequent single nucleotide polymorphism (SNP)s within LEP, rs11761556, rs12706832 rs2167270. The amplified loci geno...