[ prevalence of P53 mutations in laryngeal cancer in Kerman]

Laryngeal cancer is the second common cancer of respiratory tract, following the lung cancer. Carcinogenesis is a complex multistage process; molecular genetics has provided the evidence that activation of proto-oncogene and loss or inactivation of tumor suppressor genes [TSG] are involved in a large number of malignancies. One of the earliest significant tumor suppressor genes identified in head and neck squamous cell carcinoma [HNSCC] was P53 have a role in growth suppression activities. Thus, when P53 is deleted or silenced, the cell develops a selective growth advantage and becomes a cancer. Mutations in P53 are correlated with poorer survival and response to treatment. The aim of this study was to survey the prevalence of P53 gene mutation in patients with laryngeal cancer and to select an appropriate method of treatment. The samples were 52 patients with laryngeal cancer diagnosis have been treated by surgery. Investigation of TP53 mutation where performed by multiple ligation probe amplification [MLPA] technique which analyze the full length of gene from exon 1 to 12. The TP53 mutation was discovered in 80.8 percent of samples. By contrast between two main forms of mutation [i.e. deletions and duplications], we found that the deletions mostly occurred within exons 1, 3, 6, 9 and 12 by 59.6 percent and duplications observed in exons 1, 2, 7, 8 and 11 by 21.2 percent. Considering our results and reminding this fact that nowadays the definitive diagnosis of laryngeal cancer is made using biopsy and pathology techniques, we suggest that all biopsy specimens should be tested and those confirmed positive for TP53 mutations need some further decisions by physicians

[Prevalence of nucleotide alterations of EGFR gene in patients with esophageal squamous cell carcinoma in Kerman]

Esophageal Cancer is the sixth fatal cancer in the world. Squamous and adenocarcinoma account for 95% of esophageal cancer. The expression of EGFR has a role in the pathophysiology of epidermal-based malignancies such as esophageal cancer. EGFR is also an important criterion in the evaluation of disease staging and prognosis. The aim of this study was to survey the prevalence of EGFR gene mutations in patients with esophageal cancer by MLPA Technique. A total of 60 parafinated blocks from patients with esophageal cancer were investigated for the presence of EGFR mutations by MLPA technique. EGFR mutation was discovered in 82 percent of samples of which 52% were deletion mostly seen in exon 2 [52%] and duplication mostly seen in exon 27 [54%]. In some cases deletion and/or duplication were seen in more than one exon simultaneously. With regard to the obtained results and since the definitive diagnosis of esophageal cancer is made by biopsy and pathology techniques, it is suggested that all biopsy specimens be detected for EGFR mutations, particularly on exons 2 and 27 in order to achieve a noninvasive molecular diagnostic technique in future

Distribution of beta-globin gene mutations in thalassemia minor population of Kerman Province, Iran

Mutations in beta-globin gene may result in beta-thalassemia major, which is one of the most common genetic disorders in Iran and some other countries. Knowing the beta-globin mutation spectrum improves the efficiency of prenatal diagnosis in the affected fetuses [major beta-thalassemia] of heterozygote couples. Couples with high hemoglobin A2 and low mean corpuscular volume were studied as suspicious of beta-thalassemia carriers in Genetic Laboratory of Afzalipour Hospital, Kerman, Iran. We used amplification refractory mutation system, reverse hybridization, and DNA sequencing to determine the spectrum of beta-globin gene mutation in the people who involved with beta-thalassemia minor in this province. Among the 266 subjects, 17 different types of mutation in beta-globin gene were identified. Three of the mutations account for 77.1% of the studied cases. IVSI-5 [G>C] was the most frequent mutation [66.2%] followed by IVSII-I [G>A] [6%] and Fr 8-9 [+G] [4.9%]. The less frequent mutations include: IVSI-6 [T>C], codon 15 [G>A], codon 44 [-C], codon 39 [C>T], codon 8 [-AA], codon30 [G>C], IVSI-110 [G>A], codon 36-37 [-T], 619bp deletion, codon 5 [-CT], IVSI-25bp del, codon 41-42 [-TTCT], IVSI-I [G>A], and beta nt30 [T>A] were accounted for 19.5%. Unknown alleles comprised 3.4% of the mutations. However, the frequencies of different mutations reported here are significantly different from those found in other part of the world and even other Iranian provinces. Reporting a number of these mutations in the neighboring countries such as Pakistan can be explained by gene flow phenomenon