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Finnish heritage disease : ウィキペディア英語版
Finnish heritage disease

A Finnish heritage disease is a genetic disease or disorder that is significantly more common in people whose ancestors were ethnic Finns, natives of Finland and Sweden (Meänmaa) and Russia (Karelia and Ingria). About 40 rare diseases are regarded as Finnish heritage diseases. 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. 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.〔
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. 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.
==Finnish heritage disease==
Finnish heritage diseases include:
*APECED (autoimmune polyendocrinopathy—candidiasis—ectodermal dystrophy)
*Aspartylglucosaminuria, a lysosomal storage disease
*Congenital adrenal hyperplasia
*Congenital nephrotic syndrome, a kidney disease of newborn babies
*Congenital chloride diarrhea
*Congenital stromal corneal dystrophy
*GRACILE syndrome
*Lethal arthrogryposis with anterior horn cell disease
*Lethal congenital contracture syndrome 1
*Meretoja syndrome
*Meckel syndrome
*Myotonia congenita
*Nonketotic hyperglycinemia
*Salla disease, a lysosomal storage disease
*PEHO syndrome
*Rapadilino syndrome
*Retinoschisis
*Usher syndrome
Three rare causes of dwarfism are included in the Finnish heritage: cartilage-hair hypoplasia, diastrophic dysplasia and Mulibrey nanism.
Four genetically distinct subtypes of neuronal ceroid lipofuscinosis are found in the Finnish heritage: CLN1, CLN3, CLN5, and CLN8.〔 page 125〕 Names for conditions associated with these subtypes include infantile neuronal ceroid lipofuscinosis, Jansky-Bielschowsky disease and northern epilepsy syndrome. As of 2001, CLN5 and CLN8 had been reported almost exclusively in Finland.〔
Meckel syndrome type 1 (MKS1), a lethal condition, is known in 48 Finnish families.

抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
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