first report of a 290-bp deletion in beta-globin gene in the South of Iran

Background: beta-thalassemia is one of the most widespread disease in the world, including Iran. In this study, we reported, for the first time, A 290-bp beta-globin gene deletion in the south of Iran

Methods: Four individuals from three unrelated families with Arabic ethnic background were studied in Khuzestan Province. Red blood cell indices and hemoglobin analysis were carried out according to the standard methods. Genomic DNA was obtained from peripheral blood cells by salting out procedures. beta-globin gene amplification, multiplex ligation-dependent probe ampli?cation [MLPA] and DNA sequencing were performed

Results: The PCR followed by sequencing and MLPA test of the beta-globin gene confirmed the presence of a 290-bp deletion in the heterozygous form, along with -88C>A mutation. All the individuals had elevated hemoglobin A2 and normal fetal hemoglobin levels

Conclusions: This mutation causes beta0-thalassemia and can be highly useful for prenatal diagnosis in compound heterozygous condition with different beta-globin gene mutations

Exon sequencing of PKD1 gene in an Iranian patient with autosomal-dominant polycystic kidney disease

Autosomal dominant polycystic kidney disease [ADPKD] is one of the most common genetic kidney disorders with the incidence of 1 in 1,000 births. ADPKD is genetically heterogeneous with two genes identified: PKD1 [16p13.3, 46 exons] and PKD2 [4q21, 15 exons]. Eighty five percent of the patients with ADPKD have at least one mutation in the PKD1 gene. Genetic studies have demonstrated an important allelic variability among patients, but very few data are known about the genetic variation among Iranian populations. In this study, exon direct sequencing of PKD1 was performed in a seven-year old boy with ADPKD and in his parents. The patient's father was ADPKD who was affected without any kidney dysfunction, and the patient's mother was congenitally missing one kidney. Molecular genetic testing found a mutation in all three members of this family. It was a missense mutation GTG>ATG at position 3057 in exon 25 of PKD1. On the other hand, two novel missense mutations were reported just in the 7-year-old boy: ACA>GCA found in exon 15 at codon 2241 and CAC>AAC found in exon 38 at codon 3710. For checking the pathogenicity of these mutations, exons 15, 25, and 38 of 50 unrelated normal cases were sequenced. Our findings suggested that GTG>ATG is a polymorphism with high frequency [60%] as well as ACA>GCA and CAC>AAC are polymorphisms with frequencies of 14% and 22%, respectively in the population of Southwest Iran