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Breast cancer is one of the most common causes of death due to cancer in women. More than half of hereditary breast/ovarian cancer families could be attributed to mutation in breast cancer susceptibility gene BRCA1. This study was performed on blood samples of 30 women who affected with familial breast cancer. Non-radioactive PCR-SSCP technique was utilized mutation screening in exons 3, 10, 12 of BRCA1 gene. Two shifts in exon 3 and also two in exon 12 was detected, but no shift in exon 10 was found. Due to low number of recognized mutations, the statistical analysis didn’t show a meaningful correlation between mutations and pathological characteristics. Results from this study showed that there was a low possibility of germline mutation in these three exons. Low rate of mutation in this report was concordance with the others.

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Background & Objective: Gastric cancer is the 2nd cause of cancer mortality after lung cancer. Approximately 12% of all cancer death are due to gastric cancer. Tumorgenesis is thought to be a multistep process involving a series of genetic changes in oncogenes and suppressor genes. The most common cancer-related genetic change known in human tumors is P53 mutation, particularly in gastric cancer. This study was done to determine P53 gene mutations in gastric cancer. Materials & Methods: This study was performed on 44 biopsy from patients with gastric cancer during 2002 in 3 hospitals in Tehran. For determination of P53 gene mutations was performed PCR-SSCP methods. Results: The patients group comprised 31 males and 13 females (Average age, 60.8 years Ranging from 34 to 84 years). 36 cases (81.8%) intestinal type, 5 cases (11.4%) were diffuse type and 3 cases no defined. 44 gastric cancers of gastric tissues were screened for the mutations of P53 gene mutations in exons 5-8 using the PCR-SSCP analysis. After polyacrylamide gel electrophoresis, 9 patients (20.5%) showed an apparent electrophoretic mobility shift between the cancer and other normal samples. One mutation in exon 5 (11.1%), 2 were detected in exon 6 (22.2%), 3 were found in exon 7 (33.3%) and 3 were detected in exon 8 (33.3%). The mutation rate was 7 of 36 (21.2%) in intestinal type and 2 of (40%) in diffuse type. No significant correlation between P53 gene mutations and age and genus was found. Conclusion: This investigation showed the rate P53 gene mutation (20.5%) in gastric cancer in our society.

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Background and Objective: Cystic fibrosis (CF) is the most common inherited disorder in Caucasian populations caused by mutation in cystic fibrosis transmembrane conductance regulator (CFTR). The type of mutations and their distributions varies widely between different countries and/or ethnic groups. The aim of this study was to characterize mutations involved in this disease in Mazandaran province, Iran. Materials and Methods: In this descriptive study thirty unrelated Iranian cystic fibrosis patients were screened for deltaF508, N1303K, G542X, R347H and W1282X mutations in the CFTR gene using Reverse Dot Blot method during 2004-06. This technique uses biotinilated PCR products for simultaneous hybridization with several normal and mutant probes specific to known mutations fixed on Biodyne C membranes. Results: DeltaF508 mutation was found in 13 (21.66%) alleles. 6 patients were homozygote and one was compound heterozygote for this mutation. Conclusion: These findings reveal an important heterogeneity of CFTR gene mutations in Mazandaran Province. Thus regarding the relative low rate of detectable mutations, it is necessary to undertake larger studies for molecular diagnosis of cystic fibrosis in this province.

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Background and Objective: Alpha thalassemia is one of the most common hemoglobin disorders. Some combination of alpha globin gene mutations may cause HbH disease with severe anemia or intermediate thalassemia. genotype common deletions are routinely tested for suspicious alpha thalassemia couples but because of lack of information about the nature and frequency of point mutations and higher expenosor of sequencing, less attention was paid to them. This study was done to determine the prevalence of common point mutations of alpha globin gene in Babol, Iran.

Materials and Methods: This descriptive study was carried out on DNA of 153 adult suspected to α-thalasemia with deleted α- golobolin gene referred to genetic laboratory in Babol, Iran during 2005-09. a1 and a2 genes were amplified by using specific biotinilated primers by PCR method. PCR products were assayed using 11 specific probs corresponding to common point mutations in alpha gene (C19, IVSI (-5nt), C59, Hb constant spring, Hb Icaria, Hb seal Rock, IVSI (148), C14, poly A (-2bp), poly A2, Poly A1) and fixed on byodine C membrabe. Hybridization between the probes and PCR products was visualized after a colorimetric reaction using of conjugated streptavidin peroxidase and TMB (tetra methyle Benzidine) and H²O².

Results: The prevalence of point mutations in poly A2, 5nt, Hb constant spring and poly A1 were 28.75%, 14.38%, 7.84% and 2.61%, respectively.

Conclusion: Point mutation in alpha globin genes was detected in %53.60 out of 153 adults suspected with alpha thalassemia without common deletion mutations.

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Background and Objective: Hemoglobinopathies are among the most prevalent genetic disorders worldwide, and occur as a result of mutations in the gene involved in synthesizing hemoglobin chains. By now more than 1000 defects in hemoglobin chains are discovered. Hemoglobin D (Hb D) is one of these disorders, identified by a single nucleotide mutation on codon 121 of beta globin chain. This study was carried out to evaluate Hb D mutations through molecular methods in Mazandaran province of Iran. Materials and Methods: This descriptive laboratory study was done on 70 patients with an electrophoresis band in hemoglobin-S zone in Mazandaran province of Iran during 2010-11. Capillary zone electrophoresis was done to find out Hb D in 51 patients. Subsequently, PCR-RFLP was performed to evaluate the samples at molecular level. Results: Molecular investigation revealed all cases are carriers of hemoglobin D-Punjab. Two patients were shown to be homozygote carriers of the abnormal gene. Conclusion: This study showed all Hb D affected patients were carriers of Hb D Punjab.

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Background and Objective: Drug resistance to tuberculosis and especially multiple drug resistance tuberculosis (MDR-TB) variants are a serious problem in tuberculosis patients and make difficulties in controlling the disease. This study was coducted for detection of common mutations causing drug resistance of mycobacterium tuberculosis strains among tuberculosis patients using line probe assay method. Method: In this descriptive study, fifty four sputum samples of tuberculosis patients were randomly selected in health centers of Mazandaran, northern Iran during 2012. After culturing of sputum samples on Lowenstein–Jensen medium, genomic DNA was extracted from colonies using CTAB method. Molecular analysis of mutations causing resistance to five different antibiotics including Isiniazide, Rifampin, Sterptomycine, Amicasin / Canamycine, Kinolon were performed using long probe assay (LPA) method. Results: Out of 54 sputum samples, three (5.5%), three (5.5%), four (7.4%) were resistance to Kinolon, Amicasin / Canamycine and Sterptomycine, respectively. Mutation in KATG was seen in 2 samples resistant to Isiniazide. Mutation in rpoB 516 was seen in 3 samples resistant to Rifampin. Four samples (7.4%) were resistant to the two anti-tuberculosis antibiotics, while three samples were resistant to Sterptomycine and Kinolon and one sample was resistant to Rifampin and Canamycine. Conclusion: 7.4% of sputum samples were resistant to the two anti- tuberculosis antibiotics. Line probe assay is a rapid and suitable method for detecting tuberculosis drug resistance.

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Background and Objective: Alpha Thalassemia is one of the most prevalent hemaglobinophaties worldwide. Alpha thalasseima patients may represent wide spectrum of symptoms ranging from asymptomatic to severe life threatening anemia. This study was done to assess the carrier frequency of alpha globin gene mutations among newborns in north of Iran. Methods: In this descriptive study, 412 cord blood samples of neonate from Amir Mazandari hospitali were randomly selected during 2012. Genomic DNA was extracted using phenol-chloroform method. Multiplex Gap- PCR and PCR-RFLP methods were applied in order to detect three common gene deletions, one triplication and one point mutation. Results: Total allelic frequency of investigated mutations was 0.0825. The -α3.7 deletion with allelic frequency of 0.0485 was the most prevalent mutation among 412 neonates. Allelic frequencies of -α4.2, αααanti3.7 triplication and α-5nt mutations were 0.0206, 0.0109 and 0.0024 respectively and -Med double gene deletion was not detected. Conclusion: Most mutated cases had single gene deletion that is asymptomatic while -Med double gene deletion was not detected among the neonates. Therefore, there is low probability of a child birth with Hb H disorder in the region.

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Neurofibromatosis type1 (NF1) with the incidence of 1 in 3500 births, is the most common disorder which affects skin and peripheral nervous system. NF1 results from mutations in NF1 gene. The NF1 gene spans 350kbp and to date, nearly 2434 mutations in it were reported. The gene with 100 percent penetrance is located on chromosome 17 encoding neurofibromin protein. Recently, many challenges of its genetic analysis have been overcome through the application of new sequencing techniques. In present study patients with neurofibromatosis type 1 have been characterized from clinical symptoms such as presence of café au lait spot, plexiform neurofibroma, optic nerves involvement, presence of several patients in first degree relatives. These patients were in different ages including 73, 63, 44, 20 with different symptoms and severities of disease. In this communication, a NF1 family with 4 cases in 3 generations has been presented.

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Background and Objective: Familial hypercholesterolemia (FH) is one of the most common inherited familial diseases that cause lipid accumulation in tendons and arteries by increasing the level of low density plasma lipoprotein (LDL). The main cause of FH is a mutation in the low-density lipoprotein receptor (LDLR) gene. This study was performed to evaluate common mutations in LDLR gene in FH patients.
Methods: This descriptive study was performed on 100 patients with suspected familial hypercholesterolemia referred to Sepehr laboratory according to the Simon Broom international standard in Karaj city, Iran during 2015. After complate the questionnaire form and drawing the family tree, it was found that 17 of them had a history of disease in at least one of the first degree relatives. The presence of changes was investigated using PCR-SSCP method, and after identifying the suspected cases direct DNA sequencing was performed.
Results: Among of 17 patients with a history of FH disease, 13 patients had a heterozygote mutation in the LDLR gene. Mutations included: c.97C>T, c.445G>T, c.651-653 (DEL3), c.652-654 (DEL3), c.682G>T, c.925-931 (DEL7), c.936-940 (DEL5), c.986G>T, c.2054C>T, c.2177C>T and c.313+1G>A. Four patients did not have mutations in their LDLR gene. In two patients the common polymorphism c.1959T>C was identified.
Conclusion: The LDLR gene was involved in the development of FH in the study population. However, another gene or locus may be involved in the outbreak of this disease in the studied population.