Genetic Polymorphism in SCL22A12 Gene Associated with Gout in a Sample of Iraqi Patients

The current study aimed to  investigate the molecular defect causing the manifestation of gouty arthritis ,  the relationship between kidney function and the gout and , study the relationship between white  blood cell count and gout in a sample of  Iraqi patients  .The  study included 35 patients suffering from gout during the period  from  January 2015 to June 2015 at Al- Karamah and Al-Yarmouk  teaching hospitals .20 healthy subjects were selected to represent the control group. The mean ages of  the patients were 34 -63 years and the mean ages of  the control were 25 - 40 years The personal information's  for each patient was  obtained , including  name , age ,gender, weight , length , medications and family history of gout . Uric and creatinine tests were performed to study relationship between the disease and kidney function .White blood cells was counted to investigate the inflammation status .DNA extraction was performed from whole blood samples. After DNA quantification, the DNA samples were   used for polymerase chain reaction (PCR) amplification .Agarose gel electrophoresis of PCR product showed the presence of band with size of 300 bp, 400bp, 600bp, 253bp and 296bp. After amplification of SCL22A12 gene, good quality products were selected to be sequenced .the result of Ex-1 primer sequencing showed substitution  in (6006/A/G) , deletion (5754/5756) a subsitation  in (34745/ T/C,34942/A/G  34943/T/C) a substitution in (114/C/A) , deletion  in (113/C)  and deletion in (34946/C)base pair and insertion in (5749/c)base pair in Exon (1) of the SCL22A12 gene,  while the result of Ex-2 primer sequencing  show a deletion in (7160/ A) base pair in Exon(2)of the SCL22A12 gene.And results of Ex-3 primer sequencing showed a deletion in (7543/ T) base pair in Exon(3)of the SCL22A12 gene .Out of 35 samples , only  twenty Iraqi patients that sequenced  ,six only gave positive results when compared to healthy control; the type of mutation is deletion, substitution and insertion. The percentage of mutation types were substitution mutation42.86% anddeletion mutation 28.57% and insertion mutation 28.57%. In conclusionthere is a positive correlation between gout and uric acid, creatinine andwhite blood cell count also there is a number of mutation in SCL22A12gene that lead to gout.