This is the first comprehensive profile of cystic fibrosis transmembrane conductance regulator (CFTR) mutations and their corresponding haplotypes in the Iranian population. All of the 27 CFTR exons of 60 unrelated Iranian CF patients were sequenced to identify diseasecausing mutations. Eleven core haplotypes of CFTR were identified by genotyping six high-frequency simple nucleotide polymorphisms. The carrier frequency of 2.5 in 100 (1 in 40) was estimated from the frequency of heterozygous patients and suggests that contrary to popular belief, cystic fibrosis may be a common, underdiagnosed disease in Iran. A heterogeneous mutation spectrum was observed at the CFTR locus in 60 cystic fibrosis (CF) patients from Iran. Twenty putative disease-causing mutations were identified on 64 (53%) of the 120 chromosomes. The five most common Iranian mutations together represented 37% of the expected mutated alleles. The most frequent mutation, ⌬F508 (p.F508del), represented only 16% of the expected mutated alleles. The next most frequent mutations were c.1677del2 (p.515fs) at 7.5%, c.4041C>G (p.N1303K) at 5.6%, c.2183AA>G (p.684fs) at 5%, and c.3661A>T (p.K1177X) at 2.5%. Three of the five most frequent Iranian mutations are not included in a commonly used panel of CF mutations, underscoring the importance of identifying geographic-specific mutations in this population.

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Objectives This study aimed to investigate the association between Helicobacter pylori infection with diabetes mellitus type one and the effect of infected Helicobacter pylori on glycemic control. Methods This case control study was conducted on children with and without type 1 diabetes mellitus (T1DM). Demographic data and gastrointestinal symptoms in both groups and glycemic control status and duration of diabetes were recorded in patients with T1DM. Stool test was done on all children to detect Helicobacter pylori antigen. Results Sixty three children with T1DM with a mean of 10.88 ± 2.84 years and 105 control children with an average age 10.17 ± 2.55 years (P = 0/09) were involved in this study. The frequency of Helicobacter pylori infection in patients with T1DM was 17/ 63 (27%) and 25/105 (23.8%) in control group, (P = 0/64). The frequency of bloating, epigastric pain and nausea was not significantly different between the two groups. The frequency of epigastric pain in children with diabetes with helicobacter infection was significantly higher than non-infected children with diabetes (29.4% vs. 2.2%) (P = 0.004).The mean duration of diabetes (P = 0.53), age diagnosis of diabetes (P = 0.09), fasting blood glucose (P = 0.18), glycosylated hemoglobin (P = 0.08) and the daily insulin dose (P = 0.18) in patients with T1DM with and without helicobacter pylori infection had not significantly different. Conclusions There was no significant association between Helicobacter pylori infection and diabetes in children 5-15 years old, and glycemic control status was not difference in patients with T1DM with and without Helicobacter pylori infection.