Skip header and navigation

Refine By

11 records – page 1 of 2.

ABH secretion polymorphism in Icelanders, Aland Islanders, Finns, Finnish Lapps, Komi and Greenland Eskimos: a review and new data.

https://arctichealth.org/en/permalink/ahliterature237022
Source
Ann Hum Biol. 1986 May-Jun;13(3):273-85
Publication Type
Article
Author
A W Eriksson
K. Partanen
R R Frants
J C Pronk
P J Kostense
Source
Ann Hum Biol. 1986 May-Jun;13(3):273-85
Language
English
Publication Type
Article
Keywords
ABO Blood-Group System - genetics
Adult
Aged
Alleles
Asian Continental Ancestry Group
European Continental Ancestry Group
Finland
Greenland
Humans
Iceland
Inuits
Male
Polymorphism, Genetic
Saliva - immunology
Sweden - ethnology
Abstract
The secretion of the ABH antigens in saliva was tested in indigenous individuals of several populations: Icelanders in Reykjavik and Husavik (northeastern Iceland), Aland Islanders, Finno-Ugrians (Finns, Finnish Lapps, Komi) and Eskimos (Augpilagtok, northwestern Greenland). The frequencies of ABH non-secretors among the Icelanders (28-36%) were among the highest ever noted in Europeans. Among Alanders and Swedes on the Finnish mainland the frequency (around 20%) was comparable to Swedish values but considerably higher than among Finns (13-14%). The values among northeastern Finns and Komi (about 9%) were intermediate between values among Lapps (below 5%) and Scandinavians (15-26%), excluding Icelanders (28-41%). The average frequency of non-secretors among Lapps in Finland (2.2 +/- 0.5%) was the lowest observed among white populations. Like many other arctic populations of the Mongolian race, the Greenland Eskimos had a very low frequency of non-secretors. It is probable that the non-secretor allele ABH*se was absent from the ancient Lapps and Greenland Eskimos but introduced by invading populations. It is concluded that the ABH*se allele frequencies vary much more among northern European populations than hitherto appreciated. Recent studies indicate that the non-secretor status of the ABH blood group substances in mucous body fluids is associated with pathological conditions of the mucous membranes of the embryologically related digestive and respiratory systems, particularly with duodenal ulcer and gastric (pre)malignancies but probably also with pulmonary dysfunction. In view of these disadvantages of the ABH non-secretor status the high frequency of ABH*se in Icelanders is a paradoxical phenomenon. The frequency of ABH non-secretors among the founders (Vikings) of Iceland may have been considerably higher than among the present populations in northwestern Europe. The increase in northwestern direction of the ABH*se allele frequencies supports this hypothesis; the dilution effect has not been as strong in Iceland as on the European continent.
PubMed ID
3752918 View in PubMed
Less detail

Alpha 1-antitrypsin and acute anterior uveitis.

https://arctichealth.org/en/permalink/ahliterature245024
Source
Albrecht Von Graefes Arch Klin Exp Ophthalmol. 1981;216(3):205-7
Publication Type
Article
Date
1981
Author
K M Saari
J. Solja
M. Sirpelä
R R Frants
A W Eriksson
Source
Albrecht Von Graefes Arch Klin Exp Ophthalmol. 1981;216(3):205-7
Date
1981
Language
English
Publication Type
Article
Keywords
Acute Disease
Adolescent
Adult
Aged
Female
Finland
Gene Frequency
Humans
Isoelectric Focusing
Male
Middle Aged
Phenotype
Protease Inhibitors - metabolism
Uveitis - enzymology - genetics - metabolism
alpha 1-Antitrypsin - genetics - metabolism
Abstract
To test the pathogenetic role of the phenotype MZ of alpha 1-antitrypsin/alpha 1-protease inhibitor (PI) in acute anterior uveitis (AAU), 156 patients with AAU were examined. Sera of all patients and 120 healthy controls were PI-typed using isoelectric focusing. There were no significant differences in PI MZ frequencies either between the patients with AAU (4.5%) and the controls (4.2%), or between AAU patients with associated rheumatic diseases (4.8%) and AAU patients with no associated disease (4.3%). The results indicate that the PI MZ type is not closely associated with AAU among Finns.
PubMed ID
6972712 View in PubMed
Less detail

The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland.

https://arctichealth.org/en/permalink/ahliterature223444
Source
J Clin Invest. 1992 Jul;90(1):219-28
Publication Type
Article
Date
Jul-1992
Author
U M Koivisto
H. Turtola
K. Aalto-Setälä
B. Top
R R Frants
P T Kovanen
A C Syvänen
K. Kontula
Author Affiliation
Institute of Biotechnology, University of Helsinki, Finland.
Source
J Clin Invest. 1992 Jul;90(1):219-28
Date
Jul-1992
Language
English
Publication Type
Article
Keywords
Alleles
Amino Acid Sequence
Base Sequence
Chromosome Deletion
Exons
Finland
Humans
Hyperlipoproteinemia Type II - etiology - genetics
Lipids - blood
Molecular Sequence Data
Mutation
Phenotype
RNA, Messenger - analysis
Receptors, LDL - genetics
Abstract
A mutation of the LDL receptor gene very common among Finnish patients with heterozygous familial hypercholesterolemia (FH) was identified. This mutation, designated as FH-North Karelia, deletes seven nucleotides from exon 6 of the LDL receptor gene, causes a translational frameshift, and is predicted to result in a truncated receptor protein. Only minute quantities of mRNA corresponding to the deleted gene were detected. Functional studies using cultured fibroblasts from the patients revealed that the FH-North Karelia gene is associated with a receptor-negative (or binding-defective) phenotype of FH. Carriers of the FH-North Karelia gene showed a typical xanthomatous form of FH, with mean serum total and LDL cholesterol levels of 12 and 10 mmol/liter, respectively. This mutation was found in 69 (34%) out of 201 nonrelated Finnish FH patients and was especially abundant (prevalence 79%) in patients from the eastern Finland. These results, combined with our earlier data on another LDL receptor gene deletion (FH-Helsinki), demonstrate that two "Finnish-type" mutant LDL receptor genes make up about two thirds of FH mutations in this country, reflecting a founder gene effect. This background provides good possibilities to examine whether genetic heterogeneity affects the clinical presentation or responsiveness to therapeutic interventions in FH.
Notes
Cites: Mol Cell Biol. 1990 Oct;10(10):5215-252398889
Cites: Annu Rev Genet. 1990;24:133-702088165
Cites: Biotechniques. 1990 Apr;8(4):404-72340178
Cites: Proc Natl Acad Sci U S A. 1990 Apr;87(8):3122-62326270
Cites: J Clin Invest. 1990 Apr;85(4):1014-232318961
Cites: Anal Biochem. 1983 Jul 1;132(1):6-136312838
Cites: Proc Natl Acad Sci U S A. 1984 May;81(9):2826-306326146
Cites: Proc Natl Acad Sci U S A. 1981 Sep;78(9):5759-636272317
Cites: J Clin Invest. 1981 Oct;68(4):1012-76457059
Cites: Eur J Biochem. 1980 Jun;107(2):303-146772444
Cites: Br Med J. 1980 Sep 6;281(6241):633-67437743
Cites: Clin Chem. 1978 Jun;24(6):931-3207463
Cites: Proc Natl Acad Sci U S A. 1977 Dec;74(12):5463-7271968
Cites: Science. 1988 Jan 29;239(4839):487-912448875
Cites: Proc Natl Acad Sci U S A. 1988 Nov;85(21):7912-63263645
Cites: J Biol Chem. 1988 Sep 15;263(26):13282-903417658
Cites: Science. 1985 May 17;228(4701):815-222988123
Cites: Science. 1986 Jun 6;232(4755):1230-73010466
Cites: Anal Biochem. 1987 Apr;162(1):156-92440339
Cites: J Biol Chem. 1987 Jan 5;262(1):401-103025214
Cites: J Clin Invest. 1989 Sep;84(3):954-612569482
Cites: Genomics. 1989 Nov;5(4):874-92687159
Cites: Mol Cell Biol. 1989 Jul;9(7):2868-802779551
Cites: J Clin Invest. 1989 Aug;84(2):499-5052760198
Cites: Arteriosclerosis. 1989 Mar-Apr;9(2):211-62923577
Cites: FEBS Lett. 1988 Mar 28;230(1-2):31-42895023
Cites: FEBS Lett. 1988 Jul 18;234(2):411-63391282
Cites: Science. 1988 Mar 11;239(4845):1277-813344433
Cites: J Intern Med. 1992 Mar;231(3):227-341372927
Cites: Am J Hum Genet. 1991 Aug;49(2):443-91867200
Cites: J Clin Invest. 1990 Dec;86(6):2071-92174914
Cites: Science. 1990 Nov 30;250(4985):1273-52244210
Cites: EMBO J. 1989 Sep;8(9):2613-92573525
Cites: J Clin Invest. 1988 Aug;82(2):557-613403716
Cites: J Clin Invest. 1988 Mar;81(3):909-173343347
Cites: Cell. 1984 Nov;39(1):27-386091915
Cites: N Engl J Med. 1984 Dec 27;311(26):1658-646390206
Cites: Science. 1986 Apr 4;232(4746):34-473513311
Cites: N Engl J Med. 1987 Sep 17;317(12):734-73627182
Cites: Cell. 1985 Jul;41(3):735-433924410
Cites: J Clin Invest. 1990 Jul;86(1):254-642365819
Cites: Clin Chem. 1972 Jun;18(6):499-5024337382
Cites: Ann Clin Res. 1973 Jun;5(3):109-414584134
Cites: Z Klin Chem Klin Biochem. 1974 Sep;12(9):403-74428856
Cites: Hereditas. 1972;71(2):195-2364680662
Cites: Trends Cell Biol. 1991 Jul;1(1):20-414731805
Cites: J Biol Chem. 1951 Nov;193(1):265-7514907713
Cites: Nucleic Acids Res. 1990 Jul 11;18(13):40282374739
PubMed ID
1634609 View in PubMed
Less detail

Granular corneal dystrophy with late manifestation.

https://arctichealth.org/en/permalink/ahliterature241700
Source
Acta Ophthalmol (Copenh). 1983 Aug;61(4):514-28
Publication Type
Article
Date
Aug-1983
Author
H. Forsius
A W Eriksson
J. Karna
A. Tarkkanen
H. Aurekoski
R R Frants
M. Damsten
Source
Acta Ophthalmol (Copenh). 1983 Aug;61(4):514-28
Date
Aug-1983
Language
English
Publication Type
Article
Keywords
Adult
Aged
Arcus Senilis - genetics - pathology
Cornea - innervation - pathology
Corneal Dystrophies, Hereditary - genetics - pathology
Crystallins
Female
Finland
Humans
Male
Middle Aged
Nervous System - pathology
Pedigree
Visual acuity
Abstract
Ninety-two cases of granular corneal dystrophy, most of them belonging to 5 pedigrees are described. The age of manifestation in this Finnish type of granular dystrophy is first in the end of the second decade, and visual acuity is in mean normal through the whole life. An autopsy study showed no changes outside cornea elsewhere in the eyeball. In one family with granular dystrophy, another type of dystrophy, hereditary fleck dystrophy of the cornea, was accidentally found.
PubMed ID
6605646 View in PubMed
Less detail

Lipoprotein profile of a Greenland Inuit population. Influence of anthropometric variables, Apo E and A4 polymorphism, and lifestyle.

https://arctichealth.org/en/permalink/ahliterature11806
Source
Arterioscler Thromb. 1992 Dec;12(12):1371-9
Publication Type
Article
Date
Dec-1992
Author
P. de Knijff
L G Johansen
M. Rosseneu
R R Frants
J. Jespersen
L M Havekes
Author Affiliation
Gaubius Laboratory IVVO-TNO, Leiden, The Netherlands.
Source
Arterioscler Thromb. 1992 Dec;12(12):1371-9
Date
Dec-1992
Language
English
Publication Type
Article
Keywords
Adult
Alcohol Drinking
Alleles
Anthropometry
Apolipoproteins A - genetics
Apolipoproteins E - genetics
Cholesterol Esters - blood
Fatty Acids - blood
Female
Greenland
Humans
Inuits
Life Style
Lipoproteins - blood
Male
Polymorphism, Genetic
Research Support, Non-U.S. Gov't
Abstract
Previously it has been reported that Greenland Inuit (Eskimos) from the Uummannaq district display low levels of plasma cholesterol and triglycerides and relatively high levels of high density lipoprotein (HDL) when compared with healthy Danish control subjects (Lancet 1971;1:1143-1146). Here we present data obtained in 1989 that show the following. In a group of 133 healthy adult Greenland Inuit from Nanortalik, the levels of plasma cholesterol and low density lipoprotein (LDL) cholesterol (6.39 and 4.39 mmol/l, respectively) were slightly higher than "normal" values found in western societies, whereas the HDL cholesterol level was markedly higher (1.64 mmol/l). Compared with most Caucasian populations, the Inuit population we studied exhibits a high apolipoprotein (APO)E*4 allele frequency (0.229), whereas the APOE*2 allele frequency was extremely low (0.015). In contrast to Caucasian populations, in the Inuit population the apoE polymorphism showed only a minor influence on the plasma lipid and (apo)lipoprotein levels, as evaluated by multiple regression analysis, with the exception of apoE levels. This absence of an effect could be explained by the low very low density lipoprotein (VLDL) plus intermediate density lipoprotein (IDL) cholesterol levels. The contributions of eicosapentaenoic acid and linoleic acid to the total amount of fatty acids in plasma cholesterol esters differed markedly from those reported in 1971 for another Greenland Inuit population (3.2% versus 15.8% and 49.5% versus 20.4%, respectively), thereby resembling values now found in the average western population. Even in those Inuit who reported exclusive consumption of the traditional Inuit diet (13% of the population), the fatty acid composition of the plasma cholesterol esters closely resembled the values measured in western populations.(ABSTRACT TRUNCATED AT 250 WORDS)
PubMed ID
1450169 View in PubMed
Less detail

A new unstable PI M variant of alpha 1-antitrypsin in a Finnish isolate.

https://arctichealth.org/en/permalink/ahliterature246392
Source
Hum Hered. 1980;30(6):333-42
Publication Type
Article
Date
1980
Author
R R Frants
A W Eriksson
Source
Hum Hered. 1980;30(6):333-42
Date
1980
Language
English
Publication Type
Article
Keywords
Electrophoresis, Starch Gel
Female
Finland
Genetic Variation
Humans
Hydrogen-Ion Concentration
Isoelectric Focusing
Male
Pedigree
Phenotype
Temperature
alpha 1-Antitrypsin - genetics
Abstract
During family and population studies in a Finnish isolate (Salla), a variant of alpha 1-antitrypsin, tentatively called PI MSAL was found. On isoelectric focusing this variant was slightly cathodal to M3. With the aid of acid starch gel electrophoresis, differentiation from M3 proved reliable, because the variant was unstable in that system. The variant also showed an increased lability at + 56 degrees C and physiological pH and a decreased stability at pH 4.5 and room temperature compared to the other M subtypes. By genealogical studies it was possible to trace a common ancestor, a settler arriving to the parish around 1680, for the three families where the variant was found.
PubMed ID
6971248 View in PubMed
Less detail

A novel missense ATP1A2 mutation in a Finnish family with familial hemiplegic migraine type 2.

https://arctichealth.org/en/permalink/ahliterature180197
Source
Neurogenetics. 2004 Jun;5(2):141-6
Publication Type
Article
Date
Jun-2004
Author
M A Kaunisto
H. Harno
K R J Vanmolkot
J J Gargus
G. Sun
E. Hämäläinen
E. Liukkonen
M. Kallela
A M J M van den Maagdenberg
R R Frants
M. Färkkilä
A. Palotie
M. Wessman
Author Affiliation
Biomedicum Helsinki, Research Program in Molecular Medicine, University of Helsinki, Helsinki, Finland. mari.kaunisto@hus.fi
Source
Neurogenetics. 2004 Jun;5(2):141-6
Date
Jun-2004
Language
English
Publication Type
Article
Keywords
Amino Acid Sequence
Chromosomes, Human, Pair 1
Family Health
Female
Finland
Gene Frequency
Genetic Linkage
Haplotypes
Hemiplegia - genetics
Humans
Male
Migraine Disorders - genetics
Molecular Sequence Data
Mutation, Missense
Pedigree
Sodium-Potassium-Exchanging ATPase - genetics
Abstract
Familial hemiplegic migraine (FHM), a rare autosomal dominant subtype of migraine with aura, has been linked to two chromosomal loci, 19p13 and 1q23. Mutations in the Na+K+-ATPase alpha2 subunit gene, ATP1A2, on 1q23 have recently been shown to cause familial hemiplegic migraine type 2 (FHM2). We sequenced the coding regions of this gene in a Finnish chromosome 1q23-linked FHM family with associated symptoms such as coma and identified a novel A1033G mutation in exon 9. This mutation results in a threonine-to-alanine substitution at codon 345. This residue is located in a highly conserved N-terminal region of the M4-5 loop of the Na+,K+-ATPase. Furthermore, the T345A mutation co-segregated with the disorder in our family and was not present in 132 healthy Finnish control individuals. For these reasons it is most likely the FHM-causing mutation in this family.
PubMed ID
15133718 View in PubMed
Less detail

Pseudoinflammatory fundus dystrophy: a follow-up study.

https://arctichealth.org/en/permalink/ahliterature228738
Source
Clin Genet. 1990 Jul;38(1):21-32
Publication Type
Article
Date
Jul-1990
Author
A W Eriksson
E A Suvanto
R R Frants
H R Forsius
Author Affiliation
Institute of Human Genetics, Medical Faculty, Free University, Amsterdam, The Netherlands.
Source
Clin Genet. 1990 Jul;38(1):21-32
Date
Jul-1990
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Age Factors
Consanguinity
Corneal Dystrophies, Hereditary - complications - epidemiology - genetics
Female
Finland
Follow-Up Studies
Fundus Oculi
Genes, Recessive
Humans
Male
Myopia - etiology
Pedigree
Refraction, Ocular
Visual acuity
Abstract
We have performed a reinvestigation of a family with a presumably autosomal recessive form of pseudoinflammatory dystrophy, which we have followed for 25 years. The symptoms in this family are subretinal haemorrhages appearing at age 13-40 years in the central fundus, resulting in glial cicatrication in the outer retinal layers, progressive myopia and profound choroidal atrophy in the advanced stages of the disease. During the follow-up study, a new affected subject was found in the younger generation, and two collateral cases, who had earlier been considered as probably affected subjects, were now considered to have other fundus affections. The new case is the daughter of an affected female. The possibilities of an autosomal dominant mode of inheritance or pseudodominance are discussed. Extended genealogical studies showed that the parents of all the affected subjects, with the exception of the new case, have their origin in an area which was isolated until recently and have several common ancestors within the last 8-10 generations. Recessive inheritance also logically explains the appearance of the disease in so few other members in the vertical line of the family. To this fundus dystrophy, the rule of Lenz seems to apply: If more or less the same phenotype can be caused by both a recessive and a dominant gene, the phenotype caused by the recessive gene is generally manifested earlier and by more severe symptoms.
PubMed ID
2387082 View in PubMed
Less detail

Recent investigations of the first bleeder family in Aland (Finland) described by von Willebrand.

https://arctichealth.org/en/permalink/ahliterature244737
Source
Thromb Haemost. 1981 Feb 23;45(1):73-6
Publication Type
Article
Date
Feb-23-1981
Author
D. Nyman
A W Eriksson
M. Blombäck
R R Frants
P. Wahlberg
Source
Thromb Haemost. 1981 Feb 23;45(1):73-6
Date
Feb-23-1981
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Bleeding time
Blood Platelets - physiology
Child
Child, Preschool
Female
Genetic Variation
Humans
Infant
Male
Pedigree
Platelet Aggregation
Whole Blood Coagulation Time
von Willebrand Diseases - genetics - physiopathology
Abstract
The still living members of the original bleeder family on the Aland Islands described by von Willebrand in 1926 have been reinvestigated by using modern laboratory techniques for the measurement of the Factor VIII complex and with regard to platelet aggregation. The low level of F VIII : C activity demonstrated in 1957 could be confirmed in some of the family members, who however all had only mild bleeding symptoms. More consistently, in 6 out of 10, a low F VIIIR : Ag was found; all of those also had a low F VIII : RCoF. In none of the members were excessively low values for any of the parameters found. However, the spectrum of the whole F VIII complex indicates that the original family described by von Willebrand belongs to von Willebrand's disease, type I.
PubMed ID
6972630 View in PubMed
Less detail

11 records – page 1 of 2.