Year of publication:
Journal title abbreviated:
EUR J HUM GENET
Journal title long:
European journal of human genetics
The island population of Tristan da Cunha has a well-documented genealogy that dates to its first permanent settlement in 1816. The current population is thought to have descended from only seven females and eight males. Today, there are seven family names in use, corresponding to the number of founding fathers with present-day male descendents. Y chromosome polymorphisms have previously been shown to be reliable tools for tracing patrilineal genealogies. Here, we studied Y chromosome polymorphisms in a sample from Tristan da Cunha together with genealogical records to (i) infer the haplotypes of the seven founders and (ii) test if the Y chromosome transmission is consistent with the documented patrilineal history of the island community. We observed nine Y chromosome haplotypes of which seven could be traced to the known ancestors. Of the two additional lineages, one probably evolved from a founder haplotype due to a single-step microsatellite mutation, while the other had an obvious non-island origin. Its introduction, however, is not reflected in the records. Four more instances of non-paternity were identified, with the "new" chromosomes matching other island haplotypes. The Y chromosome data presented here question the validity of some of the genealogical documentation and emphasise the value of genetic studies in tracing ancestry.