Tracing past population migrations: genealogy of steroid 21-hydroxylase (CYP21) gene mutations in Finland
| Autor: | Pertti Sistonen, Jukka Partanen, Jarmo Jääskeläinen, Sirén Mk, Antti Levo, Raimo Voutilainen |
|---|---|
| Rok vydání: | 1999 |
| Předmět: |
Male
Population Disease Biology Disease cluster Consanguinity Genetics medicine Humans Congenital adrenal hyperplasia education Gene Finland Genetics (clinical) education.field_of_study Adrenal Hyperplasia Congenital Haplotype medicine.disease Pedigree Haplotypes Genetic marker Mutation Mutation (genetic algorithm) Female Steroid 21-Hydroxylase Biomarkers |
| Zdroj: | European Journal of Human Genetics. 7:188-196 |
| ISSN: | 1476-5438 1018-4813 |
| DOI: | 10.1038/sj.ejhg.5200262 |
| Popis: | The genealogic origin of steroid 21-hydroxylase gene (CYP21) mutations and associated haplotypes was determined in 74 unrelated Finnish families with CYP21 deficiency (congenital adrenal hyperplasia, CAH). These families account for two thirds (85/119) of all diagnosed patients of Finnish descent found in this country. We recently demonstrated that multiple founder mutations each associated with a particular haplotype can be found in Finland. Interestingly, some of the haplotypes were identical to those observed in various European populations, whereas others have not been described elsewhere, indicating a local and perhaps a more recent origin. In the present report we show that each of the major founder haplotypes originates from a particular geographic region of Finland. Thus many local genetic isolates are to be expected in Finland. Our finding is in a clear contrast to the genetic diseases known as the 'Finnish disease heritage', in which only one mutation usually predominates. Some of the CYP21 haplotypes proved very informative for analysis of the history of the Finnish population. For example, the origin of one frequent haplotype was shown to cluster in a region assumed by archaeological data to be a major site of immigration by settlers of either Scandinavian or Baltic origin during the first centuries AD. As this haplotype is frequent in many European patient populations, we provide independent genetic evidence of this Iron Age immigration. On the other hand, another frequent haplotype found solely in Finland reflects a more recent (post 15th century) settlement expansion. Consequently, well characterised and sufficiently frequent autosomal gene markers can provide useful information on migrations both between and within populations. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|