Haplotype-matched controls as a tool to discriminate polymorphisms from pathogenic mutations in mtDNA.

Abstract excerpt

We have studied the pathogenic role of 10044A-->G, a heteroplasmic mitochondrial DNA (mtDNA) mutation that has been suggested to be pathogenic in one family with severe pediatric morbidity. We found the mutation at an average frequency of 1.9% among 259 individuals including healthy controls. The mutation appeared to be heteroplasmic by restriction fragment analysis but analysis of subcloned polymerase chain...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Case-Control Studies
• Share to Child, Preschool
• Share to DNA, Mitochondrial