MOLECULAR IDENTIFICATION OF THE MOST PREVALENT MUTATION OF GLUCOSE-6-PHOSPHATE DEHYDROGENASE (G6PD) GENE IN DEFICIENT PATIENTS IN GILAN PROVINCE
Glucose-6-Phosphate Dehydrogenase (G6PD) is a cytosolic enzyme which its main function is to produce NADPH in the red blood cells by controlling the step from Glucose-6-Phosphate to 6-Phospho gluconate in the pentose phosphate pathway. G6PD deficiency is the most common X-chromosome linked hereditar...
Saved in:
| Main Author: | |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
University of Tehran
2003-12-01
|
| Series: | Journal of Sciences, Islamic Republic of Iran |
| Subjects: | |
| Online Access: | https://jsciences.ut.ac.ir/article_35090_08542a487e965bf6149db539e8481200.pdf |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850268092626632704 |
|---|---|
| author | M.R. Noori-Daloii |
| author_facet | M.R. Noori-Daloii |
| author_sort | M.R. Noori-Daloii |
| collection | DOAJ |
| description | Glucose-6-Phosphate Dehydrogenase (G6PD) is a cytosolic enzyme which its main function is to produce NADPH in the red blood cells by controlling the step from Glucose-6-Phosphate to 6-Phospho gluconate in the pentose phosphate pathway. G6PD deficiency is the most common X-chromosome linked hereditary enzymopathy in the world, that result in reduced enzyme activity and more than 125 different mutations causing it have been identified. In the present study we analyzed peripheral blood samples of 103 unrelated patients with G6PD deficiency in GilanProvince in the north of Iran. DNA samples from these subjects were analyzed for the presence of certain known G6PD mutations by the appropriate restriction enzyme digestion of fragments, amplified by PCR. In this way, it revealed that Mediterranean mutation (C563T, Ser 188 Phe) is predominant in this area and 89 samples out of 103 (86.4%) have this mutation, indicating a higher prevalence of this mutation, in Gilan in Comparison to Mazandaran (66.2%). Among other patients, 10 samples (9.71%) have Chatham mutation (G1003A, Ala 335 Thr), but none of the samples was found to have Cosenza mutation (G1367, Arg 459 Pro). |
| format | Article |
| id | doaj-art-a12c97ccdfef48488b9dbf6673bf22b1 |
| institution | OA Journals |
| issn | 1016-1104 2345-6914 |
| language | English |
| publishDate | 2003-12-01 |
| publisher | University of Tehran |
| record_format | Article |
| series | Journal of Sciences, Islamic Republic of Iran |
| spelling | doaj-art-a12c97ccdfef48488b9dbf6673bf22b12025-08-20T01:53:33ZengUniversity of TehranJournal of Sciences, Islamic Republic of Iran1016-11042345-69142003-12-0114432733135090MOLECULAR IDENTIFICATION OF THE MOST PREVALENT MUTATION OF GLUCOSE-6-PHOSPHATE DEHYDROGENASE (G6PD) GENE IN DEFICIENT PATIENTS IN GILAN PROVINCEM.R. Noori-Daloii0Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Islamic Republic of IranGlucose-6-Phosphate Dehydrogenase (G6PD) is a cytosolic enzyme which its main function is to produce NADPH in the red blood cells by controlling the step from Glucose-6-Phosphate to 6-Phospho gluconate in the pentose phosphate pathway. G6PD deficiency is the most common X-chromosome linked hereditary enzymopathy in the world, that result in reduced enzyme activity and more than 125 different mutations causing it have been identified. In the present study we analyzed peripheral blood samples of 103 unrelated patients with G6PD deficiency in GilanProvince in the north of Iran. DNA samples from these subjects were analyzed for the presence of certain known G6PD mutations by the appropriate restriction enzyme digestion of fragments, amplified by PCR. In this way, it revealed that Mediterranean mutation (C563T, Ser 188 Phe) is predominant in this area and 89 samples out of 103 (86.4%) have this mutation, indicating a higher prevalence of this mutation, in Gilan in Comparison to Mazandaran (66.2%). Among other patients, 10 samples (9.71%) have Chatham mutation (G1003A, Ala 335 Thr), but none of the samples was found to have Cosenza mutation (G1367, Arg 459 Pro).https://jsciences.ut.ac.ir/article_35090_08542a487e965bf6149db539e8481200.pdffavismglucose-6-phosphate dehydrogenasegilanchathamcosenza.mediterranean |
| spellingShingle | M.R. Noori-Daloii MOLECULAR IDENTIFICATION OF THE MOST PREVALENT MUTATION OF GLUCOSE-6-PHOSPHATE DEHYDROGENASE (G6PD) GENE IN DEFICIENT PATIENTS IN GILAN PROVINCE Journal of Sciences, Islamic Republic of Iran favism glucose-6-phosphate dehydrogenase gilan chatham cosenza .mediterranean |
| title | MOLECULAR IDENTIFICATION OF THE MOST PREVALENT MUTATION OF GLUCOSE-6-PHOSPHATE DEHYDROGENASE (G6PD) GENE IN DEFICIENT PATIENTS IN GILAN PROVINCE |
| title_full | MOLECULAR IDENTIFICATION OF THE MOST PREVALENT MUTATION OF GLUCOSE-6-PHOSPHATE DEHYDROGENASE (G6PD) GENE IN DEFICIENT PATIENTS IN GILAN PROVINCE |
| title_fullStr | MOLECULAR IDENTIFICATION OF THE MOST PREVALENT MUTATION OF GLUCOSE-6-PHOSPHATE DEHYDROGENASE (G6PD) GENE IN DEFICIENT PATIENTS IN GILAN PROVINCE |
| title_full_unstemmed | MOLECULAR IDENTIFICATION OF THE MOST PREVALENT MUTATION OF GLUCOSE-6-PHOSPHATE DEHYDROGENASE (G6PD) GENE IN DEFICIENT PATIENTS IN GILAN PROVINCE |
| title_short | MOLECULAR IDENTIFICATION OF THE MOST PREVALENT MUTATION OF GLUCOSE-6-PHOSPHATE DEHYDROGENASE (G6PD) GENE IN DEFICIENT PATIENTS IN GILAN PROVINCE |
| title_sort | molecular identification of the most prevalent mutation of glucose 6 phosphate dehydrogenase g6pd gene in deficient patients in gilan province |
| topic | favism glucose-6-phosphate dehydrogenase gilan chatham cosenza .mediterranean |
| url | https://jsciences.ut.ac.ir/article_35090_08542a487e965bf6149db539e8481200.pdf |
| work_keys_str_mv | AT mrnooridaloii molecularidentificationofthemostprevalentmutationofglucose6phosphatedehydrogenaseg6pdgeneindeficientpatientsingilanprovince |