53 persons suspected to alpha1-antitrypsin deficiency detection (AATD) were investigated for ZZ, MZ, ZS, SS, and MS alleles analysis by serum protein electrophoresis (SPE), measurement of trypsin inhibiting capacity (TIC), isoelectric focusing (IEF), polymerase chain reaction (PCR), and IEF/PCR-RFLP techniques. The result clearly shows by using SPE and TIC techniques only 35.85 % and 50.08% of ...

The interplay between the immune system, sleep dysfunction and cognitive impairment participates in progression of disability multiple sclerosis (MS). Our aim was to identify molecular pathways B cell associated with separate components MS disability. Benign MS, non-benign patients healthy controls were recruited. Patients underwent polysomnography studies. Microarray bioinformatics analysis pe...

BACKGROUND In previous studies we found that MHC2TA +1614 genotype frequency was very different when MS patients with and without human herpesvirus 6 (HHV-6) in serum samples were compared; a different clinical behavior was also described. The purpose of the study was: 1. To evaluate if MHC2TA expression in MS patients was influenced by interferon beta (IFN-beta) treatment. 2. To study MHC2TA e...

Multiple sclerosis (MS) is considered to be an autoimmune disease with an unknown cause and with immune system dysregulation. Among environmental factors, viruses are most often connected with the etiology of MS. Human endogenous retroviruses (HERVs) constitute 5 to 8% of human genomic DNA and have been detected as transcripts and proteins in the central nervous system (CNS) and peripheral bloo...

Comprehensive analysis of DNA methylation patterns is critical for understanding the molecular basis of many human diseases. While hundreds of PCR-based DNA methylation studies are published every year, the selection and implementation of appropriate methods for these studies can be challenging for molecular genetics researchers not yet familiar with methylation analysis. Here we review the mos...

introduction: polymorphism in genes involved in folate metabolism may cotribute to the susceptibility to acute lymphoblastic leukemia (all). patients and methods : to examine the influence of polymorphism in thymidylate synthase (ts 28-bp repeat) and methionine synthase (ms a2756g) genes on the susceptibility to all, 73 children with all and 128 age and gender matched, unrelated healthy individ...

To the Editor: Matrix-assisted laser desorption/ ionization time-of-flight mass spectrometry (MALDI-TOF MS) has recently emerged as a new platform for highly sensitive and accurate analysis of DNA, especially cell-free DNA (cf-DNA) (1–3). In this context MALDI-TOF MS has been shown to permit the detection of paternally inherited single nucleotide base variations from fetal cf-DNA in maternal pl...