Detection of Genetic Variant of Ribosomal Protein S20 RPS20 among Sudanese Patients with Stroke

Abstract

Stroke, the second biggest cause of mortality worldwide, has a direct impact on quality of life. It has been established that the ribosomal protein S20 (RPS20) gene is linked to both colorectal cancer (CRC) and Diamond Black fan anemia (DBA). In this descriptive cross sectional study; 50 Sudanese patients who had been diagnosed with stroke were included (36 men, or 72% of the total, and 14 women, or 28% of the total), which was done in Khartoum State between July and December 2022. The mean of patients’ age was 64.7 years, with a range of 40 to 82. 34% from patients have both DM and HTN, 28% have HTN, 24% have diabetes mellitus, and 14% are disease-free. They experienced previous strokes on average once in 40 (80%), twice in 5 (10%), and three or more times in 5 (10%). 34 (68%) patients lack a family history of stroke, while 16 (32%) have family history. Blood samples were collected from stroke patients in EDTA containers after filling the questionnaire. Salting out method was used to extract the DNA, and PCR-restriction fragment length polymorphism was used to determine the frequency of gene polymorphism in patients. The digested fragment was run on a 1.5% agarose gel which stained with ethidium promide, and visualized using a UV light source. Two bands were produced, one representing the wild-type gene AA (290 pb) and the other the mutant type gene AT (250 + 50 pb). The statistical package for social science (SPSS) version 21 computer application was used to analyze the results. The results revealed that the frequency of the normal RPS20 gene AA was 46 (92%) and the frequency of the mutant RPS20 gene AT was 4 (8%). There was no significant difference in the frequency of mutation between males and females (p = 0.88), between the frequency of mutation and various age groups (p = 0.29), or between the frequency of mutation and associated chronic diseases (p = 0.69). There was a statistically significant difference between gene mutation and the number of prior strokes (p.value = 0.019). In conclusion ribosomal protein S20 gene mutation was detected in 8% of stroke patients, further studies should be done to determine whether RPS20 mutation can be a potential risk for stroke as well as be a target for diagnosis and treatment.