493:
479:
446:
within
Finland is consistent with two separate founding settlements, in eastern and western Finland. The Finnish disease heritage has been attributed to this 4000-year-old bottleneck. The geographic distribution and family pedigrees associated with some Finnish heritage disease mutations has linked
714:
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".
862:
Consugar MB, Kubly VJ, Lager DJ, Hommerding CJ, Wong WC, Bakker E, Gattone VH, Torres VE, Breuning MH, Harris PC (June 2007). "Molecular diagnostics of Meckel–Gruber syndrome highlights phenotypic differences between MKS1 and MKS3".
298:
531:
966:
Hytönen M, Patjas M, Vento SI, Kauppi P, Malmberg H, Ylikoski J, Kere J (December 2001). "Cystic fibrosis gene mutations deltaF508 and 394delTT in patients with chronic sinusitis in
Finland".
93:
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
467:
term "Finnish disease heritage" first appears in the medical literature in the 1990s. One of the earliest uses is in the translated title of a 1994 medical article, soon followed by others.
758:
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.).
137:
90:
among ancestors of modern Finns, estimated to have occurred about 4000 years ago, presumably when populations practicing agriculture and animal husbandry arrived in
Finland.
415:. The majority of genetic diseases reported in Finland are not part of the Finnish disease heritage and their prevalence is not higher in Finland than worldwide.
147:
55:
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
521:
438:
among ancestors of modern Finns is estimated to have occurred about 4000 years ago. This bottleneck resulted in exceptionally low diversity in the
378:
254:
83:
408:
1251:
227:
100:, 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
242:
426:. In Finland, about 1 in 80 persons are carriers of a cystic fibrosis mutation, compared with an average of 1 in 25 elsewhere in Europe.
411:(EURORDIS) estimates that there are between 5,000 and 7,000 distinct rare diseases, affecting between 6% and 8% of the population of the
1018:
526:
845:
769:
906:
Salonen R.; Opitz, John M.; Reynolds, James F. (August 1984). "The Meckel syndrome: clinicopathological findings in 67 patients".
70:
these diseases are more common in the east and north, consistent with their higher association with ethnic Finns than with ethnic
382:
210:
537:
169:
158:
132:
358:
343:
238:
153:
286:
280:
259:
326:
206:
196:
1256:
386:
175:
785:
1081:
Kittles RA, Perola M, Peltonen L, Bergen AW, Aragon RA, Virkkunen M, Linnoila M, Goldman D, Long JC (May 1998).
1003:"Autosomal, mitochondrial, and Y chromosome DNA variation in Finland: evidence for a male-specific bottleneck"
442:, estimated to reflect the survival of just two ancestral male lineages. The distribution of Y chromosome
23:
is any genetic disease or disorder that is significantly more common in people whose ancestors were ethnic
1246:
506:
232:
216:
142:
435:
347:
201:
87:
1171:
de la
Chapelle A, Hästbacka J, Lehesjoki AE, Sulisalo T, Kere J, Tahvanainen E, Sistonen P (1994). "".
668:
269:
516:
309:
657:"Paternal and maternal DNA lineages reveal a bottleneck in the founding of the Finnish population"
1223:
888:
740:
581:
452:
292:
248:
101:
1215:
1180:
1153:
1112:
1063:
1022:
983:
923:
880:
841:
765:
732:
696:
630:
573:
1207:
1143:
1102:
1094:
1053:
1014:
1001:
Kittles RA, Bergen AW, Urbanek M, Virkkunen M, Linnoila M, Goldman D, Long JC (April 1999).
975:
915:
872:
724:
686:
676:
620:
612:
565:
464:
222:
109:
40:
941:
484:
423:
419:
392:
351:
275:
264:
105:
60:
32:
74:. The Finnish disease heritage does not extend to other ethnic groups in the region, the
672:
1211:
1107:
1082:
1040:
Lahermo P, Savontaus ML, Sistonen P, BĂ©res J, de Knijff P, Aula P, Sajantila A (1999).
625:
600:
498:
448:
412:
331:
191:
186:
164:
71:
56:
1240:
691:
656:
511:
320:
314:
304:
181:
16:
Group of autosomal recessive genetic disorders that affect Finns much more frequently
1227:
892:
744:
585:
439:
52:
178:(Synonyms: Northern epilepsy; Epilepsy, progressive, with intellectual disability)
1042:"Y chromosomal polymorphisms reveal founding lineages in the Finns and the Saami"
759:
556:
Norio R (May 2003). "The
Finnish Disease Heritage III: the individual diseases".
655:
Sajantila A, Salem AH, Savolainen P, Bauer K, Gierig C, Pääbo S (October 1996).
75:
1198:
Perheentupa J (October 1995). "The
Finnish disease heritage: a personal look".
979:
661:
Proceedings of the National Academy of Sciences of the United States of America
876:
569:
474:
451:, some associated with a period of "late settlement" in the 16th century (see
389:. As of 2001, CLN5 and CLN8 had been reported almost exclusively in Finland.
36:
681:
1148:
1131:
1058:
1041:
919:
443:
299:
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
113:
97:
94:
79:
1157:
1067:
1026:
987:
884:
736:
634:
577:
418:
Some genetic diseases are disproportionately rare in Finns. These include
1219:
1184:
1116:
1019:
10.1002/(SICI)1096-8644(199904)108:4<381::AID-AJPA1>3.0.CO;2-5
927:
700:
616:
339:
117:
283:-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
305:
Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy
67:
44:
28:
811:
789:
48:
1083:"Dual origins of Finns revealed by Y chromosome haplotype variation"
1002:
1098:
947:. European Organisation for Rare Diseases (EURORDIS). November 2005
728:
599:
Palo JU, Ulmanen I, Lukka M, Ellonen P, Sajantila A (April 2009).
532:
Finnish Association on Intellectual and Developmental Disabilities
24:
396:
374:
370:
366:
362:
836:
Krystyna E. Wiśniewski; Nanbert Zhong; Jeffrey C. Hall (2001).
761:
Genetic governance: Health, risk, and ethics in the biotech era
377:. Names for conditions associated with these subtypes include
176:
Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant
601:"Genetic markers and population history: Finland revisited"
942:"Rare Diseases: Understanding This Public Health Priority"
104:
of many of these diseases have been determined, enabling
399:), a lethal condition, is known in 48 Finnish families.
138:
Lethal arthrogryposis with anterior horn cell disease
1132:"Molecular genetics of the Finnish disease heritage"
447:
the enrichment in these mutations to multiple local
128:There are 36 identified Finnish heritage diseases:
838:Batten disease: diagnosis, treatment, and research
150:, with or without reversible metaphyseal dysplasia
112:, and counseling. This has raised questions of
148:Autoimmune polyendocrinopathy syndrome, type I
650:
648:
646:
644:
8:
522:BCG disease outbreak in Finland in the 2000s
197:Diarrhea 1, secretory chloride, congenital
1173:Duodecim; Lääketieteellinen Aikakauskirja
1147:
1106:
1057:
1007:American Journal of Physical Anthropology
690:
680:
624:
1130:Peltonen L, Jalanko A, Varilo T (1999).
831:
829:
379:infantile neuronal ceroid lipofuscinosis
255:Lethal congenital contracture syndrome 1
548:
409:European Organization for Rare Diseases
338:Out of these, three are rare causes of
357:Four genetically distinct subtypes of
239:Infantile-onset spinocerebellar ataxia
7:
908:American Journal of Medical Genetics
361:are found in the Finnish heritage:
243:Mitochondrial DNA depletion syndrome
228:Gyrate atrophy of choroid and retina
463:Although the concept is older, the
1212:10.1111/j.1651-2227.1995.tb13501.x
1087:American Journal of Human Genetics
1046:European Journal of Human Genetics
605:European Journal of Human Genetics
527:Medical genetics of Ashkenazi Jews
327:Tibial muscular dystrophy, tardive
207:Epilepsy, progressive myoclonic 1A
165:Ceroid lipofuscinosis, neuronal, 3
14:
491:
477:
840:. Academic Press. p. 243.
538:Finno-Ugrian suicide hypothesis
170:Ceroid lipofuscinosis, neuronal
159:Ceroid lipofuscinosis, neuronal
63:they are more common in Finns.
786:"The Finnish Disease Heritage"
359:neuronal ceroid lipofuscinosis
289:(Finnish congenital nephrosis)
272:-1, Finnish and Norwegian type
124:Finnish heritage disease types
1:
1252:Autosomal recessive disorders
260:Lysinuric protein intolerance
219:(Nonketotic hyperglycinemia)
434:Based on molecular data, a
383:Jansky–Bielschowsky disease
1273:
980:10.1080/000164801317166835
764:. Routledge. p. 215.
387:northern epilepsy syndrome
287:Nephrotic syndrome, type 1
877:10.1007/s00439-007-0341-3
570:10.1007/s00439-002-0877-1
344:cartilage–hair hypoplasia
154:Cartilage–hair hypoplasia
133:Amyloidosis, Finnish type
1136:Human Molecular Genetics
788:. FinDis. Archived from
682:10.1073/pnas.93.21.12035
86:. It is attributed to a
21:Finnish heritage disease
1059:10.1038/sj.ejhg.5200316
920:10.1002/ajmg.1320180414
968:Acta Oto-Laryngologica
507:Leena Peltonen-Palotie
403:Other genetic diseases
321:Sialuria, Finnish type
233:Hydrolethalus syndrome
217:Glycine encephalopathy
143:Aspartylglucosaminuria
1149:10.1093/hmg/8.10.1913
436:population bottleneck
348:diastrophic dysplasia
317:1, X-linked, juvenile
301:(Nasu–Hakola disease)
202:Diastrophic dysplasia
88:population bottleneck
617:10.1038/ejhg.2009.53
270:Megaloblastic anemia
673:1996PNAS...9312035S
517:Population genetics
310:RAPADILINO syndrome
211:Unverricht–Lundborg
792:on 13 January 2017
717:Prenatal Diagnosis
453:History of Finland
293:Ovarian dysgenesis
281:Muscular dystrophy
249:Lactase deficiency
102:molecular genetics
1257:Health in Finland
84:Finnish Karelians
61:genetic isolation
1264:
1232:
1231:
1200:Acta Paediatrica
1195:
1189:
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1120:
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1037:
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998:
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991:
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755:
749:
748:
711:
705:
704:
694:
684:
652:
639:
638:
628:
596:
590:
589:
564:(5–6): 470–526.
553:
501:
496:
495:
494:
487:
482:
481:
480:
223:GRACILE syndrome
110:prenatal testing
51:). There are 36
41:Northwest Russia
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1262:
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1142:(10): 1913–23.
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1080:
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1038:
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805:
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793:
784:
783:
779:
772:
757:
756:
752:
713:
712:
708:
667:(21): 12035–9.
654:
653:
642:
611:(10): 1336–46.
598:
597:
593:
555:
554:
550:
546:
497:
492:
490:
485:Medicine portal
483:
478:
476:
473:
461:
449:founder effects
432:
430:Genetic history
424:phenylketonuria
420:cystic fibrosis
405:
393:Meckel syndrome
352:Mulibrey nanism
323:(Salla disease)
276:Mulibrey nanism
265:Meckel syndrome
126:
106:genetic testing
57:founder effects
33:Northern Sweden
17:
12:
11:
5:
1270:
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1260:
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1254:
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1234:
1233:
1206:(10): 1094–9.
1190:
1175:(in Finnish).
1163:
1122:
1099:10.1086/301831
1073:
1032:
993:
958:
933:
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865:Human Genetics
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558:Human Genetics
547:
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499:Finland portal
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413:European Union
404:
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332:Usher syndrome
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192:Cornea plana 2
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187:Cohen syndrome
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1247:Rare diseases
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1201:
1194:
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1052:(4): 447–58.
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1016:
1013:(4): 381–99.
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973:
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914:(4): 671–89.
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847:0-12-017645-9
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771:0-415-35407-2
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729:10.1002/pd.82
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723:(5): 409–12.
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512:Nine diseases
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315:Retinoschisis
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182:Choroideremia
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53:rare diseases
50:
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27:, natives of
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1006:
996:
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961:
949:. Retrieved
936:
911:
907:
901:
871:(5): 591–9.
868:
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837:
816:. Retrieved
806:
794:. Retrieved
790:the original
780:
760:
753:
720:
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709:
664:
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561:
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440:Y chromosome
433:
417:
406:
391:
356:
337:
251:, congenital
127:
92:
65:
20:
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82:other than
1241:Categories
812:"Diseases"
544:References
444:haplotypes
98:recessives
459:Etymology
334:, type 3A
114:bioethics
95:autosomal
80:Karelians
1228:29999767
1158:10469845
1068:10352935
1027:10229384
988:11813900
893:11815792
885:17377820
852:page 125
814:. FinDis
745:22368642
737:11360285
635:19367325
586:26741302
578:12627297
471:See also
395:type 1 (
340:dwarfism
118:eugenics
1220:8563216
1185:8542820
1117:9545401
1108:1377088
928:6486167
818:4 March
796:4 March
701:8876258
669:Bibcode
626:2986642
534:(FAIDD)
465:English
68:Finland
66:Within
45:Karelia
37:Meänmaa
29:Finland
1226:
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1183:
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373:, and
72:Swedes
49:Ingria
39:) and
1224:S2CID
945:(PDF)
889:S2CID
741:S2CID
692:38178
582:S2CID
25:Finns
1216:PMID
1181:PMID
1154:PMID
1113:PMID
1064:PMID
1023:PMID
984:PMID
953:2009
924:PMID
881:PMID
842:ISBN
820:2018
798:2018
766:ISBN
733:PMID
697:PMID
631:PMID
574:PMID
422:and
407:The
397:MKS1
385:and
375:CLN8
371:CLN5
367:CLN3
363:CLN1
350:and
116:and
78:and
76:Sámi
59:and
47:and
31:and
1208:doi
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