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An abnormal distribution of delta F508 genotypes in cystic fibrosis patient registries.

https://arctichealth.org/en/permalink/ahliterature205593
Source
Ann Genet. 1998;41(1):31-3
Publication Type
Article
Date
1998
Author
J. Feingold
M. Guilloud-Bataille
D. De Crozes
Author Affiliation
Unité de Recherches d'Epidémiologie Génétique, INSERM Unité 155, Université Paris 7, France.
Source
Ann Genet. 1998;41(1):31-3
Date
1998
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Alleles
Canada - epidemiology
Child
Child, Preschool
Cystic Fibrosis - epidemiology - genetics
Cystic Fibrosis Transmembrane Conductance Regulator - genetics
Female
France - epidemiology
Gene Frequency
Genotype
Humans
Infant
Infant, Newborn
Male
Mutation
Registries - statistics & numerical data
Sequence Deletion
United States - epidemiology
Abstract
Delta F508 mutation of the CFTR gene is the most frequent deleterious allele involved in cystic fibrosis (CF). We have studied the distribution of the three genotypes, delta F508/delta F508, delta F508/x, x/x, in the American, Canadian and French data registries concerning CF; "x" represents the non-delta F508 mutations. In the three registries the observed distribution of the three genotypes differs from the expected one, calculated according to the Hardy and Weinberg equilibrium. Three factors could explain this discrepancy: Wahlund's effect, misinterpretation of the molecular diagnosis, or an ascertainment bias in relation with the severity of the disease. This last factor is the most likely.
PubMed ID
9599649 View in PubMed
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Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients.

https://arctichealth.org/en/permalink/ahliterature311013
Source
Genes (Basel). 2020 05 15; 11(5):
Publication Type
Journal Article
Research Support, Non-U.S. Gov't
Date
05-15-2020
Author
Nika V Petrova
Nataliya Y Kashirskaya
Tatyana A Vasilyeva
Elena I Kondratyeva
Elena K Zhekaite
Anna Y Voronkova
Victoria D Sherman
Varvara A Galkina
Eugeny K Ginter
Sergey I Kutsev
Andrey V Marakhonov
Rena A Zinchenko
Author Affiliation
Research Centre for Medical Genetics, Moskvorechje Street, 1, 115478 Moscow, Russia.
Source
Genes (Basel). 2020 05 15; 11(5):
Date
05-15-2020
Language
English
Publication Type
Journal Article
Research Support, Non-U.S. Gov't
Keywords
Adolescent
Alleles
Child
Child, Preschool
Cystic Fibrosis - epidemiology - genetics - pathology
Cystic Fibrosis Transmembrane Conductance Regulator - genetics
DNA Copy Number Variations - genetics
Ethnic Groups - genetics
Female
Gene Frequency
Genetics, Population
Humans
Infant
Male
Mutation - genetics
Russia - epidemiology
Young Adult
Abstract
The distribution and frequency of the CFTR gene mutations vary considerably between countries and ethnic groups. Russians are an East Slavic ethnic groups are native to Eastern Europe. Russians, the most numerous people of the Russian Federation (RF), make about 80% of the population. The aim is to reveal the molecular causes of CF in ethnic Russian patients as comprehensively as possible. The analysis of most common CFTR mutations utilized for CF diagnosis in multiethnic RF population accounts for about 83% of all CF-causing mutations in 1384 ethnic Russian patients. Variants c.1521_1523delCTT (F508del), c.54-5940_273+10250del21kb (CFTRdele2,3), c.2012delT (2143delT), c.2052_2053insA (2184insA), and c.3691delT (3821delT) are most typical for CF patients of Russian origin. DNA of 154 CF patients, Russian by origin, in whom at least one mutant allele was not previously identified (164 CF alleles), was analyzed by Sanger sequencing followed by the multiplex ligase-dependent probe amplification (MLPA) method. In addition to the 29 variants identified during the previous test for common mutations, 91 pathogenic CFTR variants were also revealed: 29 missense, 19 nonsense, 14 frame shift in/del, 17 splicing, 1 in frame ins, and 11 copy number variations (CNV). Each of the 61 variants was revealed once, and 17 twice. Each of the variants c.1209G>C (E403D), c.2128A>T (K710X), c.3883delA (4015delA), and c.3884_3885insT (4016insT) were detected for three, c.1766+1G>A (1898+1G>A) and c.2834C>T (S945L) for four, c.1766+1G>C (1898+1G>C) and c.(743+1_744-1)_(1584+1_1585-1)dup (CFTRdup6b-10) for five, c.2353C>T (R785X) and c.4004T>C (L1335P) for six, c.3929G>A (W1310X) for seven, c.580-1G>T (712-1G>T for eight, and c.1240_1244delCAAAA (1365del5) for 11 unrelated patients. A comprehensive analysis of CFTR mutant alleles with sequencing followed by MLPA, allowed not only the identification of 163 of 164 unknown alleles in our patient sample, but also expansion of the mutation spectrum with novel and additional frequent variants for ethnic Russians.
PubMed ID
32429104 View in PubMed
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[An analysis of mutations in the 7th, 10th and 11th exons and of the polymorphism of the 4 nucleotide tandem repeats from the 3' end of the 6th intron of the CFTR gene in families from Ukraine with a high risk of mucoviscidosis]

https://arctichealth.org/en/permalink/ahliterature36204
Source
Tsitol Genet. 1993 Jul-Aug;27(4):72-7
Publication Type
Article
Author
S A Kravchenko
L A Livshits
Source
Tsitol Genet. 1993 Jul-Aug;27(4):72-7
Language
Russian
Publication Type
Article
Keywords
Adult
Alleles
Child
Cystic Fibrosis - epidemiology - genetics
DNA - genetics
English Abstract
Exons - genetics
Gene Deletion
Heterozygote Detection
Humans
Introns - genetics
Mutation - genetics
Oligonucleotide Probes
Polymerase Chain Reaction
Polymorphism, Genetic - genetics
Repetitive Sequences, Nucleic Acid - genetics
Risk factors
Ukraine - epidemiology
Abstract
Mutations in the CFTR gene have been screened in 110 families from Ukraine with high risk of cystic fibrosis. Deletion F508 was found in 121 (55%) of 220 CF alleles. Among the rest mutant alleles (with the absence of delta F508) six other mutations occurring in the 7th, 10th, 11th exons of the CFTR gene were screened. In this way, 5 CF alleles may be characterized: 1 allele with R334W (the 7th exon) 1 with 1677 delTa (the 10th exon), 1 allele with G551D and 2 alleles with R553X (the 11th exon). We have screened 865 healthy donors for F508 from different regions of Ukraine. The frequency of heterozygous carriers in different regions ranged from 1:28 to 1:170. Strong linkage imbalance was found between polymorphic markers of 4 bp tandem repeats from the 3'-end of the sixth intron in the CFTR gene and deletion F508.
PubMed ID
8249168 View in PubMed
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[An analysis of the mutations in the mucoviscidosis gene: the origin and distribution of the delF508 major mutation in Ukraine]

https://arctichealth.org/en/permalink/ahliterature35104
Source
Tsitol Genet. 1995 Nov-Dec;29(6):67-73
Publication Type
Article
Author
L A Livshits
S A Kravchenko
S I Musienko
S G Maliarchuk
Source
Tsitol Genet. 1995 Nov-Dec;29(6):67-73
Language
Russian
Publication Type
Article
Keywords
Child
Comparative Study
Cystic Fibrosis - epidemiology - genetics
Cystic Fibrosis Transmembrane Conductance Regulator - genetics
English Abstract
Exons - genetics
Gene Frequency - genetics
Genetics, Population
Haplotypes - genetics
Heterozygote
Humans
Mutation - genetics
Reference Values
Research Support, Non-U.S. Gov't
Ukraine - epidemiology
Abstract
Seven mutations in CFTR gene have been screened in patients with cystic fibrosis from Ukraine. The frequency of major mutation delF508 among patients and healthy donors from different regions was studied. Data of age, origin and possible ways of spreading of this mutation in Ukraine have been discussing.
PubMed ID
8713839 View in PubMed
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Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe.

https://arctichealth.org/en/permalink/ahliterature32816
Source
Hum Genet. 2000 Mar;106(3):259-68
Publication Type
Article
Date
Mar-2000
Author
T. Dörk
M. Macek
F. Mekus
B. Tümmler
J. Tzountzouris
T. Casals
A. Krebsová
M. Koudová
I. Sakmaryová
V. Vávrová
D. Zemková
E. Ginter
N V Petrova
T. Ivaschenko
V. Baranov
M. Witt
A. Pogorzelski
J. Bal
C. Zékanowsky
K. Wagner
M. Stuhrmann
I. Bauer
H H Seydewitz
T. Neumann
S. Jakubiczka
Author Affiliation
Institute of Human Genetics, Medical School Hannover, Germany. doerk.thilo@mh-hannover.de
Source
Hum Genet. 2000 Mar;106(3):259-68
Date
Mar-2000
Language
English
Publication Type
Article
Keywords
Alleles
Child
Child, Preschool
Cystic Fibrosis - epidemiology - genetics
Cystic Fibrosis Transmembrane Conductance Regulator - genetics
DNA Mutational Analysis
Europe - epidemiology
Female
Gene Frequency
Humans
Infant
Infant, Newborn
Male
Phenotype
Research Support, Non-U.S. Gov't
Reverse Transcriptase Polymerase Chain Reaction
Sequence Deletion
Abstract
We report a large genomic deletion of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, viz., a deletion that is frequently observed in Central and Eastern Europe. The mutation, termed CFTRdele2,3(21 kb), deletes 21,080 bp spanning introns 1-3 of the CFTR gene. Transcript analyses have revealed that this deletion results in the loss of exons 2 and 3 in epithelial CFTR mRNA, thereby producing a premature termination signal within exon 4. In order to develop a simple polymerase chain reaction assay for this allele, we defined the end-points of the deletion at the DNA sequence level. We next screened for this mutation in a representative set of European and European-derived populations. Some 197 CF patients, including seven homozygotes, bearing this mutation have been identified during the course of our study. Clinical evaluation of CFTRdele2,3(21 kb) homozygotes and a comparison of compound heterozygotes for deltaF508/CFTRdele2,3(21 kb) with pairwise-matched deltaF508 homozygotes indicate that this deletion represents a severe mutation associated with pancreatic insufficiency and early age at diagnosis. Current data show that the mutation is particularly common in Czech (6.4% of all CF chromosomes), Russian (5.2%), Belorussian (3.3%), Austrian (2.6%), German (1.5%), Polish (1.5%), Slovenian (1.5%), Ukrainian (1.2%), and Slovak patients (1.1%). It has also been found in Lithuania, Latvia, Macedonia and Greece and has sporadically been observed in Canada, USA, France, Spain, Turkey, and UK, but not in CF patients from Bulgaria, Croatia, Romania or Serbia. Haplotype analysis has identified the same extragenic CF-haplotype XV-2c/KM. 19 "A" and the same infrequent intragenic microsatellite haplotype 16-33-13 (IVS8CA-IVS 17bTA-IVS 17bCA) in all examined CFTRdele2,3(21 kb) chromosomes, suggesting a common origin for this deletion. We conclude that the 21-kb deletion is a frequent and severe CF mutation in populations of Eastern- and Western-Slavic descent.
PubMed ID
10798353 View in PubMed
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Clinical features of cystic fibrosis patients with rare genotypes in Saguenay Lac-Saint-Jean (Quebec, Canada).

https://arctichealth.org/en/permalink/ahliterature209727
Source
Ann Genet. 1997;40(4):205-8
Publication Type
Article
Date
1997
Author
M. de Braekeleer
G. Mari
C. Verlingue
C. Allard
J P Leblanc
F. Simard
G. Aubin
C. Férec
Author Affiliation
Département des Sciences Humaines, Université du Québec à Chicoutimi, Canada.
Source
Ann Genet. 1997;40(4):205-8
Date
1997
Language
English
Publication Type
Article
Keywords
Adult
Child
Child, Preschool
Cystic Fibrosis - epidemiology - genetics
Female
Genetic Testing - methods
Genotype
Humans
Incidence
Infant
Male
Phenotype
Quebec - epidemiology
Abstract
We describe the clinical features of six cystic fibrosis (CF) patients from Saguenay Lac-Saint-Jean who bear rare genotypes. Two patients with a delta F508/I148T genotype had pancreatic insufficiency, as did two patients compound heterozygous for the 621 + 1G-->T mutation who also had a major growth retardation. One CF adult who carried a delta F508/Q890X genotype had meconium ileus and bronchiectasis. The sixth patient (A455E/R117C) had borderline sweat chloride concentrations; the diagnosis of cystic fibrosis had remained doubtful until the molecular analysis showed the presence of two CF mutations. The seventh patient with a delta F508/R1158X genotype experienced several complications and is now 43 years old.
PubMed ID
9526613 View in PubMed
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Correlation of sweat chloride concentration with genotypes in cystic fibrosis patients in Saguenay Lac-Saint-Jean, Quebec, Canada.

https://arctichealth.org/en/permalink/ahliterature205876
Source
Clin Biochem. 1998 Feb;31(1):33-6
Publication Type
Article
Date
Feb-1998
Author
M. De Braekeleer
C. Allard
J P Leblanc
G. Aubin
F. Simard
Author Affiliation
Département des Sciences Humaines, Université du Québec à Chicoutimi, Canada.
Source
Clin Biochem. 1998 Feb;31(1):33-6
Date
Feb-1998
Language
English
Publication Type
Article
Keywords
Chlorides - metabolism
Cystic Fibrosis - epidemiology - genetics - metabolism
Cystic Fibrosis Transmembrane Conductance Regulator - genetics
Genetic Testing
Genotype
Humans
Incidence
Point Mutation
Quebec - epidemiology
Sweat - chemistry
Abstract
Saguenay Lac-Saint-Jean, a geographically isolated region of northeastern Quebec has a high incidence of cystic fibrosis (CF) and three mutations only account for 94% of the CF chromosomes. The objective of the present study was to determine whether different mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene had different effects upon the sweat chloride concentration.
The sweat chloride concentration of 114 patients was measured by quantitative pilocarpine iontophoresis.
CF patients carrying the A455E mutation, usually associated with pancreatic sufficiency, had lower sweat chloride concentrations than those carrying mutations associated with pancreatic insufficiency (delta F508 and 621 + 1G-->T).
Our results confirm that mutations resulting in a reduction of the chloride current at the apical membrane of epithelial cells induce lower sweat chloride values. However, there are differences in the chloride current between genotypes, even if they are composed of mutations apparently having the same functional effect.
PubMed ID
9559222 View in PubMed
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Cystic fibrosis Delta F508 heterozygotes, smoking, and reproduction: studies of 9141 individuals from a general population sample.

https://arctichealth.org/en/permalink/ahliterature33848
Source
Genomics. 1998 May 15;50(1):89-96
Publication Type
Article
Date
May-15-1998
Author
M. Dahl
A. Tybjaerg-Hansen
H H Wittrup
P. Lange
B G Nordestgaard
Author Affiliation
Department of Clinical Biochemistry, Herlev University Hospital, Herlev, DK-2730, Denmark.
Source
Genomics. 1998 May 15;50(1):89-96
Date
May-15-1998
Language
English
Publication Type
Article
Keywords
Adult
Aged
Aged, 80 and over
Analysis of Variance
Confounding Factors (Epidemiology)
Cystic Fibrosis - epidemiology - genetics
Cystic Fibrosis Transmembrane Conductance Regulator - genetics
Denmark - epidemiology
Family Characteristics
Female
Gene Frequency
Heterozygote Detection
Humans
Male
Middle Aged
Mutation
Reproduction - genetics
Research Support, Non-U.S. Gov't
Sex Factors
Smoking - epidemiology - genetics
Abstract
Cystic fibrosis is the most common fatal autosomal recessive disease affecting Caucasian populations. It remains a puzzle how this disease is maintained at such a remarkably high incidence, however, it could be due to a reproductive advantage in cystic fibrosis heterozygotes. We tested this hypothesis. An adult Danish general population sample of 9141 individuals was screened for cystic fibrosis DeltaF508 heterozygotes; 250 carriers of this mutation were identified (2.7%). In the total sample DeltaF508 heterozygotes did not have more children than noncarriers; however, smoking interacted with genotype in predicting number of children (ANOVA: P
PubMed ID
9628826 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 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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25 records – page 1 of 3.