RESUMEN
Background and Aim: Beta-thalassemia is a common autosomal recessive disorder of hemoglobin synthesis. About 200 mutations of beta globin genes have been detected .This study was performed to determine beta globin gene mutations in blood transfusion dependent patients in Kurdistan Province hospitals from June 2012 to April 2014
Material and Methods: This descriptive study included sixthy eight blood transfusion dependent patients with beta- thalassemia major who had referred to Kurdistan Province hospital.Patients and their parents completed our questionnaires. Based on CBC and hemoglobin electro-phoresis results diagnosis of beta thalassemia was made. 5 ml blood was obtained from every participant and DNA was extracted by using standard salting out method. Then we investigated beta globin gene mutations by ARMS-PCR method and DNA sequencing
Results: The most prevalent mutations were IVS-II-1 in 30 allels [22.5%], Fr8-9[+G] in 22 allels [15.94%], IVS-I-1 in 13 allels [9.42%] and C36/37 in 11 allels [7.97%]. Among 138 allels, types of mutations in 42 allels of assessed 138 allels remained unknown
Conclusion: The results of this study were compatible with those of another study performed in Sanandaj in 2003, but in our study, mutation of C36/37 was more prevalent
RESUMEN
Breast cancer is the most common form of hereditary cancer worldwide and is an important cause of morbidity and mortality. Approximately 5-10% of breast and ovarian cancers are due to the highly penetrating germline mutations in cancer predisposing genes. Two genes, BRCA1 and BRCA2, account for at least half of these cases. The demand for BRCA1 and BRCA2 mutation screening is rapidly increasing as their identification will affect the medical management of people at increased risk for the disease. Therefore, the aim of this study was to investigate BRCA1/2 mutations in 100 high risk Iranian families. One hundred families who met the minimal risk factors for breast/ovarian cancer were screened among the families referred to Kawsar Human Genetics Research Center for the diseases in 2009-2011. The entire coding sequences and each intron/exon boundaries of BRCA1/2 genes were screened for by direct sequencing and MLPA in both patients and the controls. In the present study, we could detect the following novel mutations: p.Gly1140Ser, p.Ile26Val, p.Leu1418X, p.Glu23Gln, p.Leu3X, p.Asn1403His, p.Asn1403Asp, p.Lys581X, p.Pro938Arg, p.Thr77Arg, p.Leu6Val, p.Arg7Cys, p.Leu15Ile, p.Ser177Thr, IVS7+83[-TT], IVS8-70[-CATT], IVS2+9[G>C], IVS1-20[G>A], IVS1-8[A>G], p.Met1Ile, IVS2+24[A>G], IVS5-8 [A>G], IVS2[35-39]TTcctatGAT, IVS13+9 G>C in BRCA1 and p.Glu1391Gly, p. Val1852Ile, IVS6-70[T>G], 1994-1995 [InsA] in BRCA2. Ten mutations seemed to be pathogenic and the disease-causing mutations were seen in 16% of the families. In addition, from the total number of substitutions and reassortments [42], 80% related to BRCA1 and 20% to mutations in BRCA2 genes