Master'sOpen Access

Detection of polymorphism and mutation in gilbert syndrome gene in patients with suspected hepatitis

2023
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Advisor: Doç. Dr. Songül Şahin ; Doç. Dr. Mohammad Ibrahim Khalıl

Abstract (EN)

This study aims to estimate the levels of liver enzymes in patients with liver disorders or similar symptoms like yellowing skin and eyes, abdominal pain, lethargy, or who have a genetic history of Gilbert syndrome. 100 sample were collected, with age range 20 to 50 years, in addition to 100 healthy volunteers, with age range 22 to 48 years. There was a great difference in GPT, GOT and G6PD enzyme concentration and total bilirubin between the two groups. Genetic study results showed that the genotype (TC) had the highest frequency of 10 % in patients versus the control group of 1%. The genotype (TT) had a frequency of 90% in patients compared to 99 % in control group. The results also showed that the genotype (GC) had the highest rate of 6% in patients. The genotype (GG) had a frequency of 94 % in patients compared to 100 % in control group. As a conclusion from 200 sample, the blood groups O and A have the highest frequencies among patients, indicating that these blood groups may be more susceptible to elevation bilirubin in patients with liver disorders. The differences in serum level of G6PD between study groups referred that this enzyme may have an important role in hyperbilirubinemia condition among patients. High frequency of genotypes TC of G6PD Aures (143 T→C) and GC of UGT1A1 (position 179G>C) genes polymorphisms in patients in comparison with control, indicated that these genotypes may play an important role in variation in the level of G6PD, abnormality in liver enzymes as well as hyperbilirubinemia.

Author

Dr. Rasha Mahmood Asaad Asaad

How to Cite

Rasha Mahmood Asaad Asaad (Master Thesis). Detection of polymorphism and mutation in gilbert syndrome gene in patients with suspected hepatitis, 2023, Çankırı Karatekin Üniversitesi.

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