Asian-specific mitochondrial genome polymorphism (9-bp deletion) in Hungarian patients with mitochondrial disease

作者：Pentelenyi Klara; Remenyi Viktoria; Gal Aniko; Milley Gyorgy Mate; Csosz Aranka; Mende Balazs Gusztav; Molnar Maria Judit^*

来源：Mitochondrial DNA, 2016, 27(3): 1697-1700.

DOI：10.3109/19401736.2014.961128

• Anthropological marker
• del 8272-8281
• haplogroup
• mitochondrial disease
• mitochondrial major deletion

A 9-bp deletion of the mtDNA is known as an anthropological marker of people with East-Asian origin. This 9-bp mtDNA deletion was analyzed in 1073 Hungarians with suspected mitochondrial disease and in 468 healthy control individuals. Fourteen cases with the 9-bp deletion were found in the cohort of mitochondrial patients, and one individual from 468 controls. In six cases the 9-bp deletion was present together with pathogenic major deletions in the mitochondrial genome. In one patient we found a frame shift mutation in the D-loop region, and in another family a pathogenic m.8322 A>G mutation in the tRNA(Lys) gene. Although the 9-bp deletion is common in the populations of the Pacific region and Asia, it is present in the Hungarian population as well. This 9-bp deletion may induce instability of the mtDNA and may provoke the introduction of other pathogenic mutations.

• 出版日期2016