GLOCOSE-6-PHOSPHATE DEHYDROGENATE, IDS AND P55 POLYMORPHISM FREQUENCIES IN POPULATION: RELEVANCE TO X-CHROMOSOME INACTIVATION (XCI) STUDIES

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KAVIANI SAEID; SOLEYMANI M.; MORTAZAVI YOUSEF; POURFATH ELAH A.A.; ALI MOGHADAM K.; ZONOBI Z.; KAZEMNEJAD ANOUSHIRAVAN; GHAVAMZADEH ARDESHIR

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Journal: DANESHVAR MEDICINE Year:2005 | Volume:13 | Issue:59 Page(s): 55-62

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Title

GLOCOSE-6-PHOSPHATE DEHYDROGENATE, IDS AND P55 POLYMORPHISM FREQUENCIES IN POPULATION: RELEVANCE TO X-CHROMOSOME INACTIVATION (XCI) STUDIES

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Keywords

P55Q4

IDS& G6PD GENESQ4

HETEROZIGOSITYQ4

X-CHROMOSOME INACTIVATIONQ4

Abstract

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 C/T), 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 novo 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% (114/235). Forty percent (93/235) were heterozygous for IDS and only 28.9% (68/235) of individuals showed polymorphism at nt.1311 C/T 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.

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APA: Copy

KAVIANI, SAEID, SOLEYMANI, M., MORTAZAVI, YOUSEF, POURFATH ELAH, A.A., ALI MOGHADAM, K., ZONOBI, Z., KAZEMNEJAD, ANOUSHIRAVAN, & GHAVAMZADEH, ARDESHIR. (2005). GLOCOSE-6-PHOSPHATE DEHYDROGENATE, IDS AND P55 POLYMORPHISM FREQUENCIES IN POPULATION: RELEVANCE TO X-CHROMOSOME INACTIVATION (XCI) STUDIES. DANESHVAR MEDICINE, 13(59), 55-62. SID. https://sid.ir/paper/30784/en

Vancouver: Copy

KAVIANI SAEID, SOLEYMANI M., MORTAZAVI YOUSEF, POURFATH ELAH A.A., ALI MOGHADAM K., ZONOBI Z., KAZEMNEJAD ANOUSHIRAVAN, GHAVAMZADEH ARDESHIR. GLOCOSE-6-PHOSPHATE DEHYDROGENATE, IDS AND P55 POLYMORPHISM FREQUENCIES IN POPULATION: RELEVANCE TO X-CHROMOSOME INACTIVATION (XCI) STUDIES. DANESHVAR MEDICINE[Internet]. 2005;13(59):55-62. Available from: https://sid.ir/paper/30784/en

IEEE: Copy

SAEID KAVIANI, M. SOLEYMANI, YOUSEF MORTAZAVI, A.A. POURFATH ELAH, K. ALI MOGHADAM, Z. ZONOBI, ANOUSHIRAVAN KAZEMNEJAD, and ARDESHIR GHAVAMZADEH, “GLOCOSE-6-PHOSPHATE DEHYDROGENATE, IDS AND P55 POLYMORPHISM FREQUENCIES IN POPULATION: RELEVANCE TO X-CHROMOSOME INACTIVATION (XCI) STUDIES,” DANESHVAR MEDICINE, vol. 13, no. 59, pp. 55–62, 2005, [Online]. Available: https://sid.ir/paper/30784/en

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