How is the genetic abnormality of congenital pure red reddish retardation identified?

　　Since the discovery of the RPS19 gene mutation in congenital pure red reoccurrence (DBA), there has been further elaboration on the genes associated with DBA in the last decade. Research methods have also evolved from traditional cytogenetic abnormalities, linkage analysis, to current gene sequencing. Although the pathogenic significance of these abnormalities is unclear, many of them are likely to be involved in mediating pathogenesis. 25% of DBAs 25% of DBA have mutations in the RPS19 gene and 50% of patients have genetic abnormalities.