Molecular Study of FAM20A Gene and Biochemical Analysis for Amelogenesis Imperfecta Patients.

Objective: Aim: This study aimed to diagnose Amelogenesis Imperfecta patients if have an isolated type or are related to a syndrome such as enamel renal syndrome.

Patients And Methods: Materials and Methods: This case-control study included (60 patients and 20 controls). DNA extraction from the blood sample then used the Conventional PCR reaction and Agarose Gel Electrophoresis. The generated PCR fragments were subjected to Sanger sequencing. Geneious software showed the genotypes after aligning with a reference sequence in the Gene Bank. In addition, biochemistry analyses are performed by using a spectrophotometer.

Results: Results: The FAM20A gene was presented with three genotypes (TT, TC, CC) and two alleles (T and C), no significant variations were found. There was a positive correlation between the TT genotype with Amelogenesis Imperfecta; this means that patients whom caring TT genotype have a risk for Amelogenesis Imperfecta than other genotypes and non-significant relation regarding serum creatinine, potassium, and calcium while the serum urea and alkaline phosphatase have significant results.

Conclusion: Conclusions: patients who carry for TT genotype have a higher risk for Amelogenesis Imperfecta than other genotypes and no significant relation between creatinine, potassium, and calcium, while the serum urea and alkaline phosphatase show a significant relation.