Identification of sand flies of the subgenus Larroussius based on molecular and morphological characters in North Western Iran

The adult female sand flies [Diptera: Psychodidae] of the subgenus Larroussius are important vectors of Leishmania infantum [Kinetoplastida: Tripanosomatidae] in Meshkinshahr district, Northwest of Iran. Four Phlebotomus [Larroussius] species are present in this area, i.e. Phlebotomus [Larroussius] kandelakii, P. [La] major, P. [La] perfiliewi and P. [La] tobbi. The objective of the present study was to identify and distinguish the females of P. perfiliewi, P. major and P.tobbi, in this district. Adult sand flies were collected with sticky papers, CDC light traps, and aspirator in 2006. Individual sand flies of this four species from thirty different locations were characterized morphologically and by comparative DNA sequences analyses of a fragment of mitochondrial gene Cytochrome b [Cyt b] and nuclear gene Elongation Factor 1- alpha [EF -1 alpha]. PCR amplification was carried out for all three species P. major, P. perfiliewi, and P. tobbi in the sub-genus Larroussius. Phylogenetic analyses of P. major populations in this study displayed two different populations and genetic diversity. Spermathecal segment number, pharyngeal armature and other morphological characters of these three species were examined and found to present consistent interspecific differences. According to our findings, the phylogeny of Cyt b and EF-1 alpha haplotypes confirms the relationships between P. major, P. tobbi and P. perfiliewi as already defined by their morphological similarities

[Analysis of common mutations in GJB2 and GJB6 genes in patients with autosomal recessive non-syndromic hearing loss in Eastern Azerbaijan]

Profound hearing loss is one of the most prevalent congenital disorders affecting about 1 in 1000 newborns. Autosomal recessive non-syndromic hearing loss [ARNSHL] is the predominant form of the severe inherited childhood deafness. This type of hearing loss in one-half of the cases is caused by mutations in GJB2 [connexin 26] and GJB6 [connexin 30] genes located at DFNB 1 locus of chromosome13q. Protein products of the two above-mentioned genes play a crucial role in the intercellular communications within the inner ear through gap junction. This study was conducted to analyze the two most common mutations among ARNSHL patients referring to the Genetics center of Tabriz, eastern Azarbaijan. The most common mutation of GJB2 gene [35delG] and a mutation of GJB6 gene [del[GJB6-D13S1830]] were analyzed in 129 referring patients with ARNSHL using ARMS-PCR and multiplex-PCR techniques, respectively. These methods facilitate analyzing parents and carriers. 21% of the studied families had 35delG mutation in connexin 26 gene. 36 chromosomes [18%] out of 200 studied chromosomes had 35delG mutation while none of the chromosomes had del [GJB6-D 13S 1830] mutation in connexin 30. The 35delG mutation was assessed in parents and siblings in order to detect carriers. 35delG mutation accounts for 18% of ARNSHL in eastern Azerbaijan which is various to other published studies from different regions of Iran. The absence of del [GJB6-D13S1830] mutation in the patients may be due to the founder effect