In the west of Scotland use of a single intragenic restriction fragment length polymorphism (F9(VIII)/TaqI) allowed definitive genetic counselling for 45% of females at risk of being carriers for haemophilia B. Two further intragenic RFLPs, F9(VIII)/XmnI) and F9(VIII)/DdeI, have been applied to this population and by using all three polymorphisms the carrier status could be determined in 68% of...

The clinical and hematological course of β thalassemia intermedia is influenced by a number of genetic factors which play a role in increasing fetal haemoglobin levels. Several polymorphisms located in the promoters of β and γ globin gene are involved in influencing the disease severity. Our objective was to study the effect of cis-DNA haplotypes, motifs, or polymorphisms (Pre G γ globin gene h...

background: molecular genetic factors regulating hemoglobin f (hb f) expression are important modifiers of the severity of sickle cell anemia (ss).   methods: the prevalence of xmni polymorphic site, the g g: a g ratio and the hb f level were determined using pcr-rflp procedure, hplc and alkaline denaturation method, respectively, in various haplotypes of 52 patients with ss, 18 patients with s...

The switch from fetal to adult hemoglobin is incomplete; the residual fetal hemoglobin in adults is restricted to a subset of erythrocytes called F cells. F-cell levels are influenced by a sequence variant (C-->T) at position -158 upstream of the gamma-globin gene, termed the XmnI-Ggamma polymorphism. How the Ggamma-158 C-->T variant influences the expression of the Ggamma-globin gene is unknow...

Bluetongue virus (BTV) is a member of Orbivirus genus in family Reoviridae. The virus genome is composed of 10 double-stranded RNA segments. The RNA segment L2 encodes an outer capsid viral protein VP2, which is the main determinant of neutralization and serotype-specific immune response. BTV serotype 1 (BTV-1) specific novel primer pair was designed using VP2 gene sequences available in GenBan...

Several studies have suggested that genetic variations of the apolipoprotein (apo) AI-CIII-AIV cluster gene are associated with hyperlipidemia or atherosclerosis. These investigations were carried out mainly with Caucasian groups; there have been few associated studies involving non-Caucasian groups. This study was conducted to elucidate the association between five restriction fragment length ...

OBJECTIVE The apolipoprotein AI-CIII-AIV cluster has been associated with the response to a urate-lowering diet, and polymorphisms in the apolipoprotein CIII gene have been associated with hyperuricemia and hypertriglyceridemia. We assessed the influence of polymorphisms in the apolipoprotein AI-CIII-AIV cluster on the response to a urate-lowering diet in patients with hyperuricemia. METHODS ...