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Assignment of a novel locus for autosomal recessive congenital ichthyosis to chromosome 19p13.1-p13.2.

https://arctichealth.org/en/permalink/ahliterature199221
Source
Am J Hum Genet. 2000 Mar;66(3):1132-7
Publication Type
Article
Date
Mar-2000
Author
E. Virolainen
M. Wessman
I. Hovatta
K M Niemi
J. Ignatius
J. Kere
L. Peltonen
A. Palotie
Author Affiliation
Department of Clinical Chemistry, Laboratory Department of Helsinki University Central Hospital, Helsinki, Finland.
Source
Am J Hum Genet. 2000 Mar;66(3):1132-7
Date
Mar-2000
Language
English
Publication Type
Article
Keywords
Child
Chromosome Mapping
Chromosomes, Human, Pair 19 - genetics
Female
Finland
Genes, Recessive - genetics
Genetic Heterogeneity
Haplotypes - genetics
Heterozygote
Humans
Ichthyosis - genetics - pathology
Infant, Newborn
Likelihood Functions
Lod Score
Male
Microsatellite Repeats - genetics
Microscopy, Electron
Pedigree
Software
Abstract
Autosomal recessive congenital ichthyosis (ARCI) is a rare, clinically and genetically heterogeneous genodermatosis. One gene (transglutaminase 1, on 14q11) and one additional locus (on 2q33-35, with an unidentified gene) have been shown to be associated with a lamellar, nonerythrodermic type of ARCI. We performed a genomewide scan, with 370 highly polymorphic microsatellite markers, on five affected individuals from one large Finnish family with nonerythrodermic, nonlamellar ARCI. The only evidence for linkage emerged from markers in a 6.0-cM region on chromosome 19p13.1-2. The maximum two-point LOD score of 7.33 was obtained with the locus D19S252, and multipoint likelihood calculations gave a maximum location score of 5.2. The affected individuals share two common core haplotypes, which makes compound heterozygosity possible. The novel disease locus is the third locus linked to ARCI, supporting previous evidence for genetic heterogeneity of ARCI. This is also the first locus for a nonlamellar, nonerythrodermic phenotype of ARCI.
Notes
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PubMed ID
10712223 View in PubMed
Less detail

Association and Mutation Analyses of the IRF6 Gene in Families With Nonsyndromic and Syndromic Cleft Lip and/or Cleft Palate.

https://arctichealth.org/en/permalink/ahliterature288371
Source
Cleft Palate Craniofac J. 2014 Jan;51(1):49-55
Publication Type
Article
Date
Jan-2014
Author
M. Pegelow
H. Koillinen
M. Magnusson
I. Fransson
P. Unneberg
J. Kere
A. Karsten
M. Peyrard-Janvid
Source
Cleft Palate Craniofac J. 2014 Jan;51(1):49-55
Date
Jan-2014
Language
English
Publication Type
Article
Keywords
Abnormalities, Multiple - genetics
Alleles
Cleft Lip - genetics
Cleft Palate - genetics
Cysts - genetics
DNA Mutational Analysis
Eye Abnormalities - genetics
Female
Fingers - abnormalities
Genotype
Haplotypes
Humans
Interferon Regulatory Factors - genetics
Knee Joint - abnormalities
Lip - abnormalities
Lower Extremity Deformities, Congenital - genetics
Male
Pedigree
Phenotype
Polymorphism, Single Nucleotide
Sweden
Syndactyly - genetics
Urogenital Abnormalities - genetics
Abstract
(1) To detect interferon regulatory factor 6 gene (IRF6) mutations in newly recruited Van der Woude syndrome (VWS) and popliteal pterygium syndrome (PPS) families. (2) To test for association, in nonsyndromic cleft lip and/or cleft palate (NSCL/P) and in VWS/PPS families, the single nucleotide polymorphism (SNP) rs642961, from the IRF6 enhancer AP-2a region, alone or as haplotype with rs2235371, a coding SNP (Val274Ile).
IRF6 mutation screening was performed by direct sequencing and genotyping of rs642961 and rs2235371 by TaqMan technology.
Seventy-one Swedish NSCL/P families, 24 Finnish cleft palate (CP) families, and 24 VWS/PPS families (seven newly recruited) were studied.
Allelic and genotypic frequencies in each phenotype were compared to those of the controls, and no significant difference could be observed. IRF6 gene mutation was detected in six of the seven new VWS/PPS families. Association analysis of the entire VWS/PPS sample set revealed the A allele from rs642961 to be a risk allele. Significant association was detected in the Swedish CP subset of our NSCL/P collection where the G-C haplotype for rs642961-rs2235371 were at risk (P = .013).
Our results do not support the previously reported association between the A allele of rs642961 and the NSCL phenotype. However, in the VWS/PPS families, the A allele was a risk allele and was, in a large majority (>80%), transmitted on the same chromosome as the IRF6 mutation.
PubMed ID
23394314 View in PubMed
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The association of antibodies to cardiolipin, beta 2-glycoprotein I, prothrombin, and oxidized low-density lipoprotein with thrombosis in 292 patients with familial and sporadic systemic lupus erythematosus.

https://arctichealth.org/en/permalink/ahliterature178359
Source
Scand J Rheumatol. 2004;33(4):246-52
Publication Type
Article
Date
2004
Author
S. Koskenmies
O. Vaarala
E. Widen
J. Kere
T. Palosuo
H. Julkunen
Author Affiliation
Department of Medical Genetics, University of Helsinki, Finland.
Source
Scand J Rheumatol. 2004;33(4):246-52
Date
2004
Language
English
Publication Type
Article
Keywords
Adult
Aged
Aged, 80 and over
Anticoagulants - analysis - immunology
Cardiolipins - analysis - immunology
Cohort Studies
Enzyme-Linked Immunosorbent Assay
Female
Finland
Glycoproteins - analysis - immunology
Humans
Immunoglobulin G - analysis
Immunoglobulin M - analysis
Lipoproteins, LDL - analysis - immunology
Lupus Erythematosus, Systemic - genetics - immunology
Male
Middle Aged
Oxidation-Reduction
Predictive value of tests
Prothrombin - analysis - immunology
Risk factors
Sensitivity and specificity
Thrombosis - etiology
beta 2-Glycoprotein I
Abstract
To determine the prevalence of antibodies to phospholipid-binding plasma proteins (aPL) and to oxidized low-density lipoprotein (OX-LDL), and to study the association of these antibodies with thrombosis and coronary heart disease (CHD) in patients with systemic lupus erythematosus (SLE).
Clinical data and sera from 89 Finnish patients with familial and 203 with sporadic SLE were available for the study. Enzyme-linked immunosorbent assays (ELISA) were used for antibody determination.
The occurrence of thrombosis in our SLE patients was 13.7% (40/292) and of clinically diagnosed CHD was 1.4% (4/292). All antibody assays, except IgM-aCL, were significantly associated with thrombosis. IgG-aCL alone or in combination with anti beta 2-GPI or with anti OX-LDL were reasonably sensitive (38%, 48%, and 58%, respectively) and specific (87%, 80% and 72%, respectively) for a history of thrombosis. A high risk of arterial thrombosis (TIA or stroke) was associated with positivity of IgG-aCL, anti beta 2-GPI, and anti-prothrombin. Venous thrombosis was significantly associated with all other assays except IgM-aCL and anti-prothrombin. No test correlated with CHD, but the number of affected patients was small. There were three multiplex SLE families with two patients having a history of thrombosis: no consistent pattern of aPL or anti OX-LDL was found in these patients.
IgG-aCL alone or in combination with anti beta 2-GPI or anti OX-LDL are sensitive and specific tests for detecting SLE patients at increased risk of thrombosis. The aetiopathogenesis of thrombosis in familial SLE appears to be multifactorial.
PubMed ID
15370721 View in PubMed
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Association study of 15 novel single-nucleotide polymorphisms of the T-bet locus among Finnish asthma families.

https://arctichealth.org/en/permalink/ahliterature179237
Source
Clin Exp Allergy. 2004 Jul;34(7):1049-55
Publication Type
Article
Date
Jul-2004
Author
E. Ylikoski
R. Kinos
N. Sirkkanen
M. Pykäläinen
J. Savolainen
L A Laitinen
J. Kere
T. Laitinen
R. Lahesmaa
Author Affiliation
Centre for Biotechnology, University of Turku and Abo Akademi University, Finland. emmi.ylikoski@btk.utu.fi
Source
Clin Exp Allergy. 2004 Jul;34(7):1049-55
Date
Jul-2004
Language
English
Publication Type
Article
Keywords
Asthma - genetics - immunology
Chi-Square Distribution
Female
Finland
Humans
Immunoglobulin E - blood
Linkage Disequilibrium
Male
Polymorphism, Single Nucleotide
T-Box Domain Proteins
Transcription Factors - genetics - immunology
Abstract
T-box expressed in T cells (T-bet) is a transcription factor regulating the commitment of T helper (Th) cells by driving the cells into the Th1 direction. Abnormal Th1/Th2 balance may lead to complex disorders like asthma or autoimmune diseases. Recent studies have suggested that T-bet might be a candidate gene for asthma. This led us to screen 23 Finnish individuals for single-nucleotide polymorphisms (SNPs) in the T-bet locus and study the association between the SNPs and high serum IgE level and asthma.
We screened all six exons, adjacent intronic areas and 2 kb of the 5'-flanking region from 23 individuals utilizing WAVE trade mark technology. To explore whether T-bet is associated in serum IgE regulation or asthma we genotyped the SNPs in a Finnish asthmatic founder population. The association analyses were made using haplotype pattern mining.
Fifteen novel SNPs were found in the T-bet gene. Within the Finnish asthmatic founder population, there was no association between T-bet SNPs and high serum IgE level or asthma.
The genetic variability in the T-bet gene does not play a role in the pathogenesis of human asthma. Our results provide a novel panel of SNPs in T-bet and will help determine whether the SNPs have a functional role in other T cell-mediated diseases.
PubMed ID
15248849 View in PubMed
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Association study of the chromosomal region containing the FCER2 gene suggests it has a regulatory role in atopic disorders.

https://arctichealth.org/en/permalink/ahliterature199219
Source
Am J Respir Crit Care Med. 2000 Mar;161(3 Pt 1):700-6
Publication Type
Article
Date
Mar-2000
Author
T. Laitinen
V. Ollikainen
C. Lázaro
P. Kauppi
R. de Cid
J M Antó
X. Estivill
H. Lokki
H. Mannila
L A Laitinen
J. Kere
Author Affiliation
Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland. tarja.laitinen@helsinki.fi
Source
Am J Respir Crit Care Med. 2000 Mar;161(3 Pt 1):700-6
Date
Mar-2000
Language
English
Publication Type
Article
Keywords
Adult
Aged
Alleles
Asthma - genetics - immunology
Chromosome Mapping
Chromosomes, Human, Pair 19
Cross-Cultural Comparison
Female
Finland
Genes, Regulator - genetics
Genetic Markers - genetics
Genetics, Population
Haplotypes
Humans
Male
Middle Aged
Phenotype
Polymerase Chain Reaction
Polymorphism, Genetic - genetics
Receptors, IgE - genetics
Respiratory Hypersensitivity - genetics - immunology
Spain
Abstract
On the basis of studies with animal models, the gene for the low-affinity receptor for immunoglobulin E (IgE) (FCER2, CD23) has been implicated as a candidate for IgE-mediated allergic diseases and bronchial hyperreactivity, or related traits. Given evidence for genetic complexity in atopic disorders, we sought to study two European subpopulations, Finnish and Catalonian. We studied three phenotypic markers: (1) total serum IgE level; (2) asthma; and (3) specific IgE level for a mixture of the most common aeroallergens in Finland. Altogether, eight polymorphic markers spanning a region of 10 cM around the FCER2 gene on chromosome 19p13 were analyzed in 124 families. The physical order of the markers and the location of the FCER2 gene were confirmed by using radiation hybrids. The allele and haplotype association study showed a suggestive haplotype association (significance of p
PubMed ID
10712310 View in PubMed
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[Congenital chloride diarrhea gene error in the anion transporter protein].

https://arctichealth.org/en/permalink/ahliterature190656
Source
Duodecim. 1999;115(17):1833-41
Publication Type
Article
Date
1999

Cystic fibrosis gene mutations deltaF508 and 394delTT in patients with chronic sinusitis in Finland.

https://arctichealth.org/en/permalink/ahliterature191774
Source
Acta Otolaryngol. 2001 Dec;121(8):945-7
Publication Type
Article
Date
Dec-2001
Author
M. Hytönen
M. Patjas
S I Vento
P. Kauppi
H. Malmberg
J. Ylikoski
J. Kere
Author Affiliation
Helsinki University ENT Hospital, Helsinki University Central Hospital, Finland.
Source
Acta Otolaryngol. 2001 Dec;121(8):945-7
Date
Dec-2001
Language
English
Publication Type
Article
Keywords
Adult
Base Sequence
Chronic Disease
Cystic Fibrosis - complications - epidemiology - genetics
Cystic Fibrosis Transmembrane Conductance Regulator - genetics
DNA Mutational Analysis
DNA Primers - genetics
Female
Finland - epidemiology
Gene Frequency - genetics
Humans
Male
Maxillary Sinusitis - complications - epidemiology - genetics
Point Mutation - genetics
Polymerase Chain Reaction
Sequence Deletion - genetics
Abstract
Previous studies have shown that cystic fibrosis (CF) gene mutations are linked to several severe chronic infections. Chronic sinusitis is one condition that may well be influenced by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. We studied two prevalent CF mutations (AF508 and 394delTT) in a population with a low incidence of CF. The carrier frequency of the CF mutations in the Finnish population is approximately 1 in 80. We examined DNA specimens from 127 chronic sinusitis patients and found one patient who was heterozygous for 394delTT gene mutation. None of the DNA specimens had any AF508 mutation. This study shows that in a population with a low incidence of CF there was no abnormal carrier distribution of the two most common CF gene mutations in a group of chronic sinusitis patients. Routine screening of sinusitis patients for CF mutations provides no additional information on the etiology of chronic sinusitis.
PubMed ID
11813900 View in PubMed
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Cystic fibrosis in a low-incidence population: two major mutations in Finland.

https://arctichealth.org/en/permalink/ahliterature218974
Source
Hum Genet. 1994 Feb;93(2):162-6
Publication Type
Article
Date
Feb-1994
Author
J. Kere
X. Estivill
M. Chillón
N. Morral
V. Nunes
R. Norio
E. Savilahti
A. de la Chapelle
Author Affiliation
Department of Medical Genetics, University of Helsinki, Finland.
Source
Hum Genet. 1994 Feb;93(2):162-6
Date
Feb-1994
Language
English
Publication Type
Article
Keywords
Adult
Base Sequence
Child, Preschool
Cystic Fibrosis - epidemiology - genetics
Cystic Fibrosis Transmembrane Conductance Regulator
DNA Mutational Analysis
Electrophoresis, Polyacrylamide Gel
Female
Finland - epidemiology
Haplotypes
Humans
Incidence
Male
Membrane Proteins - genetics
Molecular Sequence Data
Mutation
Abstract
The incidence of cystic fibrosis (CF) in Finland, 1:25,000 newborn, is one of the lowest in Caucasian populations. The delta F508 mutation accounts for 18/40 (45%) of CF chromosomes in Finland. Other mutations were therefore sought among the remaining 55%. Twelve out of 40 chromosomes (30%) were found to carry 394delTT, whereas G542X and 3732delA were each detected in one chromosome. Eight mutations remained unidentified using a testing panel for 26 mutations. Mutation 394delTT was associated exclusively with haplotype 23-36-13. Five unknown mutations were associated with different haplotypes for microsatellite markers, whereas three shared the same haplotype. Most delta F508 mutations and all unidentified mutations originated from regions of old and dense settlement in the coastal regions, whereas 394delTT was geographically clustered and enriched in a rural location, consistent with a local founder effect. The remote location of Finland and her population history give a plausible explanation for the rarity of CF in Finland.
PubMed ID
7509311 View in PubMed
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Cystic fibrosis in Finland: a molecular and genealogical study.

https://arctichealth.org/en/permalink/ahliterature230434
Source
Hum Genet. 1989 Aug;83(1):20-5
Publication Type
Article
Date
Aug-1989
Author
J. Kere
R. Norio
E. Savilahti
X. Estivill
A. de la Chapelle
Author Affiliation
Department of Medical Genetics, University of Helsinki, Finland.
Source
Hum Genet. 1989 Aug;83(1):20-5
Date
Aug-1989
Language
English
Publication Type
Article
Keywords
Adult
Alleles
Child
Chromosomes, Human, Pair 7
Cystic Fibrosis - epidemiology - ethnology - genetics
European Continental Ancestry Group
Female
Finland
Gene Frequency
Humans
Male
Pedigree
Polymorphism, Restriction Fragment Length
Abstract
The incidence of cystic fibrosis (CF) in Finland is one tenth that in other Caucasian populations. To study the genetics of CF in Finland, we used a combined molecular and genealogical approach. Out of the 20 Finnish families with a living CF patient, 19 were typed for eight closely linked restriction fragment length polymorphisms (RFLP) at the MET, D7S8, and D7S23 loci. The birthplaces of the parents and grandparents were traced using population registries. Allele and haplotype frequencies in Finland are similar to those of other European and North American populations, but are modified by sampling: two regional CF gene clusters, evidently the results of a founder effect, were identified. Generally, the gene was evenly distributed over the population, carrier frequency being estimated at approximately 1.3%. We conclude that CF in Finland is caused by the common Caucasian mutation(s), and that the low frequency of the gene can be explained by a negative sampling effect and genetic drift.
PubMed ID
2570015 View in PubMed
Less detail

Cystic fibrosis mutation delta F508 in Finland: other mutations predominate.

https://arctichealth.org/en/permalink/ahliterature228485
Source
Hum Genet. 1990 Sep;85(4):413-5
Publication Type
Article
Date
Sep-1990
Author
J. Kere
E. Savilahti
R. Norio
X. Estivill
A. de la Chapelle
Author Affiliation
Department of Medical Genetics, University of Helsinki, Finland.
Source
Hum Genet. 1990 Sep;85(4):413-5
Date
Sep-1990
Language
English
Publication Type
Article
Keywords
Child
Child, Preschool
Cystic Fibrosis - epidemiology - genetics
Finland - epidemiology
Gene Frequency
Humans
Mutation
Abstract
The frequency of mutation delta F508 was determined in all 20 Finnish cystic fibrosis (CF) families with living affected children (19 with pancreatic insufficiency). delta F508 was detected in 18 out of 40 CF chromosomes (45%). At least two different mutations associated with pancreatic insufficiently have occurred in a rare haplotype defined by XV2c, CS.7, KM19 alleles 1 2 2. Geographical clustering of delta F508 and other mutations suggested that a founder effect and genetic drift have influenced the frequency of mutations causing CF in Finland.
PubMed ID
2210753 View in PubMed
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40 records – page 1 of 4.