A nonparametric distance analysis of biochemical genetic data from the Åland Islands, Finland

Carmelli, Dorit; Jorde, Lynn B.

doi:10.1002/ajpa.1330570310

Cited by 7 publications

(5 citation statements)

References 13 publications

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“…Excluding individuals not born in Aland, Sottunga was also shown to have the most divergent gene frequencies of any parish (Mielke et al, 1976). Others have shown that, although Sottunga received few immigrants from Aland's other parishes, immigrants from Sweden and Finland came in numbers that effectively offset drift effects on gene frequencies after 1900 Carmelli and Jorde, 1982). Including immigrants from outside Aland, Sottunga's gene frequencies were shown to be similar to Aland's main island region by 1929.…”

Section: Introductionmentioning

confidence: 95%

“…Sottunga is one of 16 Lutheran parish subdivisions that have been treated in previous studies of Wland's population structure, demography, and regional genetic variation (Eriksson et al, 1971a-c;Mielke et al, 1976Mielke et al, , 1982Workman and Jorde, 1980;Carmelli and Jorde, 1982;Jorde et al, 1982). More detailed descriptions of Aland's population can be found in those papers; relevant details are recapitulated only briefly here.…”

Section: Introductionmentioning

confidence: 99%

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Inbreeding and genetic disease in Sottunga, Finland

O’Brien

Jorde

Rönnlöf³

et al. 1988

American J Phys Anthropol

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The contribution of inbreeding to the prevalence of recessive genetic diseases in the Aland Island parish of Sottunga is investigated. Genealogical data for 3,030 individuals spanning up to 15 generations were used to estimate inbreeding. This small island community shows a low average inbreeding value of .0031 for the period 1725-1975. A cohort analysis shows that inbreeding increased from 1750 to 1900, when maximum inbreeding for those born in Sottunga reached .0057. A sharp decline in inbreeding occurred thereafter. Individuals with island-born parents made the largest contributions to inbreeding in all time periods compared to those with one or two migrant parents. These trends are consistent with changing migration patterns and isolate breakdown in Aland since 1900. An analysis of pedigree development demonstrates that remote consanguinity contributed more to inbreeding through time than close consanguinity. Both the number of common ancestors and the number of paths of relationship between spouses increased dramatically through time, the latter at a much faster rate. The contribution to average inbreeding per path, however, diminished rapidly through time. This analysis indicates that inbreeding does not account for the high incidence of autosomal recessive disorders, such as tapetoretinal disease, found in the parish.

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Section: Introductionmentioning

confidence: 95%

Section: Introductionmentioning

confidence: 99%

Inbreeding and genetic disease in Sottunga, Finland

O’Brien

Jorde

Rönnlöf³

et al. 1988

American J Phys Anthropol

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“…Sottunga had the largest average genetic distance from other parishes based on three generations of gene frequency data from Alanders (Eriksson et al, 1973). Sottunga's unusual frequencies of Rh and ABO alleles distinguished it from other parishes (Mielke et al, 1976;Eriksson et al, 1980;Carmelli and Jorde, 1982). Its outlier status, particularly in earlier periods, has been attributed to its distance from the main island region and scant immigration from other parishes.…”

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confidence: 99%

Founder effect and genetic disease in Sottunga, Finland

O’Brien

Jorde

Rönnlöf

et al. 1988

American J Phys Anthropol

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Pedigree data are analyzed in order to determine the factors responsible for the high frequencies of certain genetic disorders in an isolated Swedish-speaking population of Finland's A land archipelago. The founders of Sottunga are identified, and the genetic contributions of each founder to descending birth cohorts are estimated. Founders born before 1700 have far more descendants in the contemporary gene pool than do more recent founders. However, because of migration and depopulation since 1900, the expected genetic contributions of the early founders to the present-day population are similar to those of later founders. A descendant in the contemporary population has a 2% chance of having inherited a particular gene from the founder who makes the largest single contribution to the gene pool. This corresponds approximately to a 2% probability of inheriting an autosomal dominant disease gene from this founder. Given an average inbreeding coefficient of 0.0016, the probability of inheriting two recessive disease genes from this founder is 0.000032. The incidence of autosomal dominant von Willebrand disease in Sottunga is greater than 10% while that of autosomal recessive tapetoretinal disease is 1.5%. We conclude, therefore, that the high frequencies of these diseases are not due to the disproportionate genetic contribution of one or a few particular founders. It is more likely that these disease genes occurred in high frequency in the initial population or were introduced repeatedly through time.

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“…Population genetic studies in the &and Islands have demonstrated that isolated outer island parishes have experienced substantial genetic drift (Eriksson et al 1973a, b, Mielke et al 1976, Workman & Jorde 1980, Carmelli & Jorde 1982. Sottunga in particular experienced high rates of drift because of its small population size and low migration rates.…”

Section: Discussionmentioning

confidence: 99%

Wolman disease: morphological, clinical and genetic studies on the first Scandinavian cases

Röyttä

Fagerlund²,

Toikkanen

et al. 1992

Clinical Genetics

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On the Åland Islands, a 1‐month‐old girl was diagnosed as having Wolman disease. The diagnosis was confirmed neurochemically; a decreased activity of acid lipase was noted in the proband and her parents had typical carrier values. This is the first Scandinavian case reported. The skin biopsy revealed cytoplasmic accumulations identical to those noted in two sibs who highly probably had Wolman disease during the 1950s. Both these sibs died at the age of about 3 months and presented a heavy accumulation of lipid material in lymph nodes, spleen, adrenal glands, liver, gut, and also some pathological alterations in other organs. Electron microscopic findings from deparaffinized samples showed cytoplasmic accumulation of lipid material similar to that noted in Wolman disease. Genealogical analyses revealed that the index families had ancestors from the same restricted area and also common ancestors during the 17th century. The parents of the two affected sibs were born on a small island and were related in many different ways. On the basis of genealogical studies and other genetic investigations performed, the importance of founder and drift effect for manifestations of rare hereditary disorder in isolates is stressed.

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A nonparametric distance analysis of biochemical genetic data from the Åland Islands, Finland

Cited by 7 publications

References 13 publications

Inbreeding and genetic disease in Sottunga, Finland

Inbreeding and genetic disease in Sottunga, Finland

Founder effect and genetic disease in Sottunga, Finland

Wolman disease: morphological, clinical and genetic studies on the first Scandinavian cases

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