Tkáãiková a. , M. R. , Bhide I . Mikula: Asymmetric PCR-SSCP: a Useful Tool for Detection of OLA-DRB1(MHC class II) Gene Polymorphism in Slovak Improved Valachian Sheep. Acta Vet. Brno 2005, 74: 275-278. Detection of OLA-DBR1 (exon 2) gene polymorphism is presented in the paper. Rapid and inexpensive polymorphism detection method, namely, single stranded conformation polymorphism (SSCP) was ass...

  Background and Objective: Familial hypercholesterolemia (FH) is an autosomal trait, which is caused by mutations in Low Density Lipoprotein Receptor (LDLR) gene. FH penetrance is about 100% and worldwide prevalence for heterozygous subjects is almost 1 in 500 and for homozygous 1 in 1,000,000. The patients are at risk of premature coronary heart disease (CHD) due to defective LDLR a...

Objective(s): As mitochondrial oxidative stress is probably entailed in ATP production, a candidate modifier factor for the long QT syndrome (LQTS) could be mitochondrial DNA (mtDNA). It has been notified that ion channels' activities in cardiomyocytes are sensitive to the ATP level. Materials and Methods: The sample of the research was an Iranian family with LQTS for mutations by PCR-SSCP and...

AIMS Mutations of seven crystallin genes have been shown to cause familial cataract. The authors aimed to identify disease causing crystallin mutations in paediatric cataract families from south eastern Australia. METHODS 38 families with autosomal dominant or recessive paediatric cataract were examined. Three large families were studied by linkage analysis. Candidate genes at regions providi...

purpose: the aim of this study was to test the in vitro sensitivity of lymphocytes of patients with head and neck cancer against gamma irradiation and also to find out if the frequencies of chromosomal aberrations correlate with side effects of radiotherapy. patients and methods : peripheral blood of 101 patients with head and neck cancer was collected before the onset of radiotherapy, cultured...

background and objective: familial hypercholesterolemia (fh) is an autosomal trait, which is caused by mutations in low density lipoprotein receptor (ldlr) gene. fh penetrance is about 100% and worldwide prevalence for heterozygous subjects is almost 1 in 500 and for homozygous 1 in 1,000,000. the patients are at risk of premature coronary heart disease (chd) due to defective ldlr and hence cho...

introduction: haemophilia a is the most common inherited x-linked recessive bleeding disorder. the severity of the resultant bleeding diathesis depends on the fviii levels associated with the mutation. analysis of carrier state can be made indirectly by dna linkage analysis or directly by identifying the mutation that leads to the disease. the aim of this study was to identification of the caus...

objective(s): as mitochondrial oxidative stress is probably entailed in atp production, a candidate modifier factor for the long qt syndrome (lqts) could be mitochondrial dna (mtdna). it has been notified that ion channels' activities in cardiomyocytes are sensitive to the atp level. materials and methods: the sample of the research was an iranian family with lqts for mutations by pcr-sscp...

PURPOSE To assess the allelic variation of the VMD2 gene in patients with Best disease and age-related macular degeneration (AMD). METHODS Three hundred twenty-one AMD patients, 192 ethnically similar control subjects, 39 unrelated probands with familial Best disease, and 57 unrelated probands with the ophthalmoscopic findings of Best disease but no family history were screened for sequence v...