............................................................................................................................9 INTRODUCTION ..................................................................................................................11 REVIEW OF THE LITERATURE ........................................................................................13 1 General features of ova...

A 32-basepair deletion polymorphism in the CCR5 chemokine receptor gene (CCR5 TROKUT 32) could increase the resistance to HIV-1 infection or delayed progression to AIDS. This mutant allele is common among Caucasians of Western European descent, but has not been observed in people of African or Asian ancestry. Genetic studies provided in European countries have shown a highest prevalence in Nord...

OBJECTIVE To evaluate the G6PD(C563T) Mediterranean mutation among Jordanian females who were admitted to Princess Rahma Teaching Hospital (PRTH) with/or previous history of favism. STUDY DESIGN A descriptive study. PLACE AND DURATION OF STUDY Jordanian University of Science and Technology and PRTH, from October 2003 to October 2004. METHODOLOGY After obtaining approval from the Ethics Co...

Many kinds of mutations in mitochondrial (mt) DNA have been reported to be related to the development of Diabetes Mellitus (DM), this type of diabetes has also been shown to be influenced by other genetic factors and/or environmental factors. Among them, tRNALeu(UUR) and its adjacent mtDNA NADH dehydrogenase subunit 1(ND1) region within the mt genome are linked to high susceptibility to DM. A p...

We describe an extended pedigree in which second cousins are affected with cystic fibrosis (CF). Since the degree of relationship of the affected subjects is 1/32, common descent of one CF mutation was expected when the DNA laboratory undertook mutation analysis. Mutation testing showed that each CF mutation was introduced into the family by random mating and not by descent through a common anc...

A rearrangement of exon 13 in the factor VIII gene has been identified as the causative mutation in 32% of Northern Italian patients with mild hemophilia A. We have demonstrated that all share a common haplotype, thus suggesting that the mutation likely occurred in a single ancestor. To date, no predominant mutation has been identified in mild hemophilia A, therefore it would be extremely usefu...

We have investigated in in vivo roles of T4 gene-32 protein in recombination. We have studied the effects of gene-32 mutations under conditions that allow normal DNA replication and are permissive for progeny production. Under these conditions, certain gene-32 mutations specifically reduce insertion-type (short-interval) recombination but none affect crossover-type (long-interval) recombination...

background and aim: jaundice is a common disorder in neonates and one of the provable causes of glucose-6-phosphate dehydrogenase (g6pd) deficiency, some mutation types of which may be associated with severe neonatal icter. in this line, the present study has been conducted to compare g6pd mutations in incteric and non icteric neonates. materials and methods: this case-control study was impleme...