OBJECTIVE Although the calculated carrier frequency for point mutations of the β-globin gene is around 10% for Antalya Province, nothing is known about the profile of large deletional mutations involving the β-globin gene. In this study, we aimed to screen common deletional mutations in the β-globin gene cluster in patients for whom direct DNA sequencing was not able to demonstrate the mutation...

An American black woman was found to have the phenotype of moderately severe a-thalassemia normally associated with the loss of two to three a-globin genes despite an a-gl9bin gene map that demonstrated the loss of only a single a-globin gene (-a/ aa). Several individuals in her kindred with normal a-globin gene mapping studies (aa/aa) had mild a-thalassemia hematologic values consistent with t...

A single base substitution (A-G) at position 31 within the highly conserved proximal promoter element. the TATA box, was identified in the fi-globin gene cloned from a Japanese woman with fl -thalassemia. It appears that she is homozygous for this specific allele, as determined by haplotype analysis using seven different polymorphic sites in the fl-globin gene cluster. Transient expression of the

The a globin gene locus of the common gibbon (Hylobates lar) was isolated, and it contains two closely linked a globin genes that share the same arrangement as that found for the homologous genes of other catarrhine primates. The nucleotide sequences of the gibbon a globin genes were determined and compared with the a globin gene sequences from other primate species (human, chimpanzee, oranguta...

In humans, the b-globin cluster contains fetal gand g-globin and adult dandb-globin genes. Around the timeof birth, fetal hemoglobin (HbF) is almost completely replaced by adult hemoglobin (HbA) containing 2 b-globin chains. Based upon this developmental transition in hemoglobin production, mutations in the b-globin gene locus can cause a variety of hemoglobinopathies including sickle cell dise...

The human a-globin-like embryonic I;-globin chains are present in abundance during the first 5 to 6 weeks of gestation. Subsequently, &-globin chains are present in fetal blood at a very low level, which is supplanted by the expression of a-globin chains. Adult individuals who are carriers of the (--SEA/) a-thalassemia deletion, in contrast to normal adults, have low levels of embryonic &-gl...

Extensive molecular studies have characterized 15 dimorphic and 2 multiallelic genetic markers within the human alpha-globin gene cluster. Analysis of these markers in 9 populations has shown that the alpha-globin locus is remarkably polymorphic and is therefore an ideal marker on chromosome 16 for the construction of a human genetic linkage map. The combined analysis of 9 polymorphic markers h...

We describe a new type of gamma delta beta-thalassemia in four generations of a family of Scotch-Irish descent. The proposita presented with hemolytic disease of the newborn, which was characterized by a microcytic anemia. Initial restriction endonuclease analysis of the DNA showed no grossly abnormal patterns, but studies of polymorphic restriction sites and gene dosage revealed an extensive d...

Background: In the previous study, we have shown that the presence of A allele at position -588 in γ-globin gene was highly frequent and closely associated with fetal hemoglobin elevation among β-thalassemia intermedia patients. Therefore, we decided to investigate whether this allele (A allele at -588) could result in an increase in γ-globin gene expression to ameliorate the severity of the di...