AML در خانم هاي نرمال و بيمار مبتلا به لوسمي ميلوييدي حاد P55 و پروتيين پالميتوييل غشايي IDS ايدورونات -2- سولفاتاز G6PD بررسي فراواني پلي مورفيسم ژن هاي گلوكز-6- فسفات هيدروژناز

Glocose-6-Phosphate Dehydrogenate, IDS and P55 Polymorphism Frequencies in Iranian Population: Relevance to X-Chromosome Inactivation (XCI) Studies

Background: X-chromosome inactivation has widely been used in female individuals to differentiate reactive hyperplasia from true clonal cell expansion (neoplasia) arising from somatic mutation in a number of hematological disorders. X-inactivation analysis can be performed in the absence of any tumor specific markers, which allows in theory analysis of all human neoplasms. In most clonality assays, DNA methylation has been used to prove X-inactivation, however, DNA methylation is not always perfectly correlated with inactivation. Unlike DNA sequence polymorphisms, RNA gene polymorphisms will directly measure the gene activity. In order to study X-chromosome inactivation in hematological neoplasms, it is proposed to determine the frequency of G6PD, IDS and P55 polymorphisms at the RNA level. Purpose: To investigate the rate of heterozygosity and frequency of G6PD (nt. 1311 CIT), IDS (nt. 438 C/T) and P55 (nt. 358 G/T) RNA polymorphisms in some Tehran female patients and normal individuals. Methods: This study was carried out on DNA from 170 normal females and 35 patients with de nova acute myeloid leukemia (AML) aged 25 to 45 years old by using polymerase chain reaction (PCR) and restriction endonuclease analysis. Results: The frequency of heterozygosity for P55 was found to be 48.5% (1141235). Forty percent (931235) were heterozygous for IDS and only 28.9% (681235) of individuals showed polymorphism at nt.1311 CIT for G6PD gene. Some individuals were heterozygous for more than one gene polymorphism. Conclusion: The rates of heterozygosity obtained for the above gene polymorphisms were similar to the results of studies in other countries. It can be concluded that these polymorphic gene sequences are useful for studying X-chromosome inactivation in hematological disorders in Iranian populations.