[Molecular analysis of mutation MEFV gene involved inpatient's with familial of Mediterranean fever referred to Taleghani hospital Tehran between 2006-2008]

Familial Mediterranean fever [FMF] is an autosomal recessive disorder characterized by recurrent attacks of fever and inflammation in the peritoneum, synovium, or pleura, accompanied by pain. In this study, we examined all 10 exons to determine the most common mutations in MEFV gene as a single gene associated with FMF. In this basic study, 51 clinically diagnosed Iranian FMF patients referred to Taleghani hospital were studied. Peripheral blood was gained from them and genomic DNA was extracted according to phenol chloroform standard protocol. They were screened for the MEFV mutation using bidirectional sequencing and finally, the sequences were analyzed by related soft wares. Of 51 patients suspected to FMF, 24 [47.05%] were positive for mutation and 27 [52.95%] had no mutations. 14 patients had M694V mutation in exon10 including 4 homozygote mutation, 8 heterozygote and 4 compound heterozygote. Moreover, we could find 6 patients with M680I mutation and 2 individual [8.3%] with V721I mutation in exon 10. Only one person carried E148Q heterozygote mutation in exon 2. Our finding were compatible with others investigation that M694V mutation is the most common mutation in different populations

Association of CALHM1 gene polymorphism with late onset Alzheimer's disease in Iranian population

Alzheimer's disease [AD] is a genetically heterogeneous neurodegenerative disease and Late-Onset type [LOAD] is the most common form of dementia affecting people over 65 years old. CALHM1 [P86L] encodes a transmembrane glycoprotein that controls cytosolic Ca[2+] concentrations and A beta levels and P86L polymorphism in this gene is significantly associated with LOAD in independent case controls in a number of studies. This study was performed to determine whether this polymorphism contributes to the risk for LOAD in Iranian population. One hundred and forty one AD patients and 141 healthy controls were recruited in this study. After extraction of genomic DNA, the genotype and allele frequencies were determined in case and control subjects using PCR/RFLP method. The statistical analysis showed a significant difference in the heterozygote genotype frequency in case and control groups and polymorphic allele had a protective role between two groups. Also after stratifying the subjects by their APOE-epsilon status, no significant association was observed. Our study suggests that P86L polymorphism could be a protective factor for late-onset Alzheimer's disease [LOAD] in Iranian population. However, to confirm these results, further study with a bigger sample size may be required