Molecular detection of some mutations of G6PD in a sample of Iraqi patients

number: 
3569
English
Degree: 
Author: 
Hadeel Mohammed Khalaf
Supervisor: 
Prof. Dr. Rehab Subhi Ramadhan,
year: 
2015

          This study was constructed to discuss an issue regarding  Glucose 6 phosphate dehydrogenase deficiency enzyme, and the genetic disorder that leading to heamolysis anemia. A total of 50 blood samples were collected from different hospitals (Yarmook Hospital, Center Child hospital , AL Alweyaa , Medical City) beside to 20 sample as a control (healthy).These samples were vary in the deficiency of the enzyme from mild to chronic according to the test of G6PD. The period time of collection samples took about three months from March to June 2014. According to the G6PD test, it was found that the percentage of mild was 42% , chronic was 40% and carrier G6PD was 18% as stated on statistics analysis of Chi square. DNA was extracted from obtainable samples and subjected to PCR amplification using 3 specific primers designed for purpose of this study, the first primer (Frag I) with product length 115 bp, while second primer (FragII) with product length 1500 bp and third primer (Frag III) with product length 2000 bp That positive result obtained from respectively G6PD, as compared with those with chronic state, result of DNA sequencing reveled that percentage of substitution was 70% and insertion was 30%.  
    The other side of the study, concerned with the genetic inheritance of the disease by taking Iraqi families and Note inherited disease in these families where found that the lack of this enzyme found in the X chromosome and the father inherited disease to females and mother inherited disease to male and female and that the ratio of male will be more.