Group of autosomal recessive genetic disorders that affect Finns much more frequently
A Finnish heritage disease is any genetic disease or disorder that is significantly more common in people whose ancestors were ethnic Finns, natives of Finland and Northern Sweden (Meänmaa) and Northwest Russia (Karelia and Ingria). There are 36 rare diseases regarded as Finnish heritage diseases.[1] The diseases are not restricted to Finns; they are genetic diseases with far wider distribution in the world, but due to founder effects and genetic isolation they are more common in Finns.
Within Finland these diseases are more common in the east and north, consistent with their higher association with ethnic Finns than with ethnic Swedes.[2] The Finnish disease heritage does not extend to other ethnic groups in the region, the Sámi and Karelians other than Finnish Karelians. It is attributed to a population bottleneck among ancestors of modern Finns, estimated to have occurred about 4000 years ago, presumably when populations practicing agriculture and animal husbandry arrived in Finland.[3]
In Finland about one in five persons carries a gene defect associated with at least one Finnish heritage disease, and about one in 500 children born is affected.[4] Most of the gene defects are autosomal recessives, so that if both the mother and father carry the same defect, the chance that their child will have the associated disease is 1 in 4. The molecular genetics of many of these diseases have been determined, enabling genetic testing, prenatal testing, and counseling. This has raised questions of bioethics and eugenics.[5]
^Norio R (May 2003). "The Finnish Disease Heritage III: the individual diseases". Human Genetics. 112 (5–6): 470–526. doi:10.1007/s00439-002-0877-1. PMID 12627297. S2CID 26741302.
^Palo JU, Ulmanen I, Lukka M, Ellonen P, Sajantila A (April 2009). "Genetic markers and population history: Finland revisited". European Journal of Human Genetics. 17 (10): 1336–46. doi:10.1038/ejhg.2009.53. PMC 2986642. PMID 19367325.
^Cite error: The named reference pmid8876258 was invoked but never defined (see the help page).
^Kallinen J, Heinonen S, Palotie A, Mannermaa A, Ryynanen M (May 2001). "Antenatal gene tests in low-risk pregnancies: molecular screening for aspartylglucosaminuria (AGU) and infantile neuronal ceroid lipofuscinosis (INCL) in Finland". Prenatal Diagnosis. 21 (5): 409–12. doi:10.1002/pd.82. PMID 11360285. S2CID 22368642.
^Seppo Poutanen (2005). "3: The first genetic screening in Finland: its execution, evaluation, and some possible implications for liberal government". In Robin Bunton; Alan Petersen (eds.). Genetic governance: Health, risk, and ethics in the biotech era. Routledge. p. 215. ISBN 0-415-35407-2.
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