PMC:2495064 / 11202-12074 JSONTXT

{"project":"2_test","denotations":[{"id":"18674747-16532388-2049174","span":{"begin":870,"end":872},"obj":"16532388"}],"text":"When the carriers of mtDNA mutations were studied together, the frequency of the major European haplogroups was no different from the background population (Haplogroup H, p = 1.0; J, p = 0.1; U including subgroup K, p = 0.1; T, p = 1). However, all of the m.14484T→C carriers belonged to haplogroup J (p = 0.011, based on a comparison of the two index cases to the background-population data in Table 1). This was not the case for the other two LHON mutations, m.3460G→A and m.11778A→G. Subhaplogroup analysis of the two m.14484T→C pedigrees on the basis of mtDNA D-loop sequencing (Table 3) showed that one family belonged to J2a (siblings 4607-1 and 0493-1 harbored m.16069T, m.16126C, m.150T, m.152C, m. 195C, m.16145A, and m.16231C) and the other to J1c (02966 harbored m.16069T, m.16126C, m.462T, and m.228A but is wild-type at m.152, m16145, m.16222, and m.16261).11"}