| dc.description.abstract | Glucose-6-phosphate dehydrogenase deficiency is the most common hereditary
enzymopathy in human and many G6PD mutations causing this disease have
been found with different frequencies. Dealing with the concern caused by this
abnormality is strongly dependent on precise detection and reliable screening of
molecular tests. The aim of this study was the investigation of specificity and
accuracy of Tetra primer ARMS PCR method comparing with conventional ARMS
PCR. The main and primary task is to optimize the key components of Tetra-
ARMS PCR for later improved performance. The size for genotyping of Canton
mutation in G6PD deficiency is thirty samples including homozygote and
heterozygote which were genotyped by ARMS PCR assay. After all the essential
work done, results analysis and final DNA sequencing outcomes are two
evidences to prove that Tetra-ARMS PCR is surpassing than conventional ARMS
PCR. It means that both specificity and sensitivity of Tetra primer ARMS PCR are
higher than ARMS-PCR. Comparing with Tetra primer ARMS PCR which
represented 100% agreement with sequencing method, conventional ARMS PCR
technique showed all disagreement, because of 4 discordant results. In
conclusion, Tetra primer ARMS PCR method is a reliable and accurate technique
and it is suggested that it can be used as a complementary method for
diagnostic cases instead of conventional ARMS PCR method. This suggestion
originated with perfect rate of agreement between outcomes of sequencing
method, as a suitable method with rapid and cost benefits for detecting the
mutations. For future research, this study will be useful for later accuracy
improvement, sensitivity test and enhancement of Tetra-ARMS PCR.Hence the
desire to develop Tetra-ARMS PCR to become the common molecular diagnostic
method beside biochemical tests will be soon taken into practice.
Keywords:
G6PD
Canton mutation
Tetra-ARMS
ARMS
Optimization
Validation | en_US |
