Functional Characterization of Argininosuccinate Lyase Gene Variants by Mini-Gene Splicing Assay

Conclusion: Two new pathogenic mutations of ASL gene, C.208-15 T>A and C.281G>T, were found in an ASA family, which enriches the mutational profile of the ASL gene and provides a basis for genetic diagnosis of ASA. In addition to the mutation in the exon region, the base change in the intron may cause aberrant splicing of mRNA and lead to abnormal structure and function of the protein.

Source: Frontiers in Genetics - May 16, 2019 Category: Genetics & Stem Cells Source Type: research