background: mutations in the gjb2 gene encoding connexin 26 protein, are the main cause for autosomal recessive and sporadic non syndromic hearing loss in many populations. here, we have taken together and reviewed results from our six previous publications, our unpublished data from ten iranian provinces, as well as data from two previous mutation reports to provide a comprehensive collection ...

evidence showed that chemokines serve as pro-migratory factors for immune cells. ccl3, ccl4 and ccl5, as the main cc  chemokines subfamily members, activate immune cells through binding to cc chemokine receptor 5 or ccr5. macrophages, nk cells and t lymphocytes express ccr5 and thus, affected ccr5 expression or functions could be associated with altered immune responses. deletion of 32 base pai...

Phenylketonuria (PKU) is a heterogeneous and autosomal recessive metabolic disorder that is mainly caused by mutations in the hepatic phenylalanine hydroxylase (PAH) gene. This study was designed to identify PAH mutations within exons 6, 7, and 10-12 in PKU patients from southwest Iran. Forty Iranian patients with clinical and biochemically confirmed PKU were enrolled. The exons were sequenced ...

background: the frequency of pyruvate kinase (pk) deficiency, an autosomal recessive defect, is approximately 3 per 10,000 individuals in shiraz and surrounding areas, and is increased due to high consanguinity marriage frequency. the purpose of this study is to obtain data on the frequency and spectrum of gene mutation of pk in newborns, from shiraz and surrounding areas. materials and methods...

Background and Objective: Janus kinase 2 (JAK2) and Myeloproliferative Leukemia (MPL) mutations are confirmatory indicators for Myeloproliferative Neoplasm (MPN). The current study was performed to determine the frequency of MPL mutation in MPN patients without JAK2 mutation, in order to assign MPL mutation frequency in North-East of Iran.Methods: Total o...

Abstract We screened the KCNJ11 gene from 35 individuals clinically diagnosed with type 1 diabetes mellitus under the age of 6 months in 3 years duration. Six different heterozygous missense mutations were found in 7 of the 35 probands, which accounted for 20% of all individuals. A novel mutation W68R (No Locus, GU170814; 2009) was identified in the kir6.2, the pore-forming subunit of the KATP ...

  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...

Bartter syndrome (BS) is a group of uncommon genetic disorders of reabsorption of salt in the cortical thick ascending limb (TAL) of the Henle's loop, typically distinguished by metabolic alkalosis, salt loss, hypokalemia, hyperreninemic hyperaldosteronism and normal blood pressure. Bartter syndrome type 3, recognized as a classic BS (CBS), occurs because of mutations in CLCNKB gene. We enroll...

In this study, a new alpha globin gene mutation on the α2-globin gene is reported. This mutation resulted in a Lys > stop codon substitution at position 127 which was detected in four individuals (three males and one female). DNA sequencing revealed this mutation in unrelated persons in Khuzestan province, Southwestern Iran of Lor ethnicity. This mutation caused no severe hematological abnormal...