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Point-of-Care Mutation Detection in Navajo Neurohepatopathy

Navajo neurohepatopathy (NNH) is a fatal genetic disorder often caused by 149G>A mutation in the MPV17 gene. NNH (affecting 1-in-1600 Navajo babies) is characterized by brain damage and liver disease/failure. Phoenix Children’s Hospital currently uses gene sequencing to identify the 149G>A mutation. While this process is conclusive, there are limitations, as it requires both time

Diagnostic Methods for Detecting Microvillus Inclusion Disease

Microvillus Inclusion disease is a life-threatening disease caused by a single nucleotide polymorphism (SNP) that affects people of Navajo descent. This research sought to design a diagnostic method with future application as a screening tool. Three diagnostic methods were explored: amplification refractory mutation system (ARMS), restriction fragmentation length polymorphism (RFLP), and a tentacle probe. ARMS