Frequency of ?F508 mutation and haplotype analysis in Austrian cystic fibrosis families

1992 ◽  
Vol 89 (4) ◽  
Author(s):  
J�rg Larsen ◽  
Anthi Georghiou ◽  
FritzD. Kury ◽  
Manfred G�tz ◽  
Konstanze Sanz ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Haplotype Analysis

Frequency of the delta Phe508 mutation and correlation with XV.2c/KM-19 haplotypes in an American population of cystic fibrosis patients: results of a collaborative study

1990 ◽  
Vol 36 (10) ◽  
pp. 1741-1746 ◽  
Author(s):  
W E Highsmith ◽  
G L Chong ◽  
H T Orr ◽  
T R Perry ◽  
D Schald ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Haplotype Analysis ◽  
Screening Program ◽  
Collaborative Study ◽  
Population Based ◽  
Carrier Status ◽  
Chain Reaction ◽  
Polymerase Chain ◽  
Phenylalanine Residue ◽  
Test Result

Abstract The cystic fibrosis (CF) gene has been recently cloned, and a deletion of 3 basepairs (bp) of DNA was found on most of the CF chromosomes. This deletion leads to the synthesis of a protein that lacks a phenylalanine residue at position 508. Using two polymerase chain reaction protocols to study the frequency of this mutation in a series of 192 CF patients, we found the mutation on 72% of affected chromosomes. We then used this value to calculate the predictive value of a negative test result in a population-based screening program for CF carrier status. Haplotype analysis with the polymorphic markers XV.2c and KM-19 on 239 CF chromosomes revealed that 90.7% of CF chromosomes with the deletion had a single haplotype. This haplotype was also associated with 60.4% of CF chromosomes with unknown mutations. These values can be used to calculate the probability of whether an individual from the general population is a carrier of any CF mutation.

Genetic counselling for cystic fibrosis based upon mutation/haplotype analysis

The Lancet ◽  
1990 ◽  
Vol 336 (8708) ◽  
pp. 190-191 ◽  
Author(s):  
Eila Watson ◽  
Bob Williamson ◽  
Louise Brueton ◽  
Robin Winter
Keyword(s):  
Cystic Fibrosis ◽  
Genetic Counselling ◽  
Haplotype Analysis

Contribution of common CFTR variants (M470V, T854, and Q1463) to cystic fibrosis in Tunisia: haplotype analysis

2021 ◽  
Vol 79 (1) ◽  
pp. 63-68
Author(s):  
Malek Nefzi ◽  
Sondess Hadj Fredj ◽  
Rym Dabboubi ◽  
Samia Hamouda ◽  
Neji Tebib ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Haplotype Analysis

Lung involvement, the ΔF508 mutation and DNA haplotype analysis in cystic fibrosis

1992 ◽  
Vol 88 (6) ◽  
pp. 639-641 ◽  
Author(s):  
F. Santamaria ◽  
D. Salvatore ◽  
O. Castiglione ◽  
V. Raia ◽  
G. de Ritis ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Haplotype Analysis ◽  
Lung Involvement

Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphicCFTR DNA markers

1996 ◽  
Vol 8 (2) ◽  
pp. 149-159 ◽  
Author(s):  
Núria Morral ◽  
Thilo Dörk ◽  
Roser Llevadot ◽  
Violetta Dziadek ◽  
Bernard Mercier ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Dna Markers ◽  
Haplotype Analysis

XV-2c/KM-19 haplotype analysis of cystic fibrosis mutations in Mexican patients

2001 ◽  
Vol 102 (3) ◽  
pp. 277-281 ◽  
Author(s):  
Lorena Orozco ◽  
Lizbeth Gonz�lez ◽  
Margarita Ch�vez ◽  
Rafael Vel�zquez ◽  
Jos� Luis Lezana ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Haplotype Analysis ◽  
Mexican Patients

scholarly journals Analysis of extra- and intragenic marker haplotypes as part of molecular diagnosis of cystic fibrosis in patients from Serbia

2008 ◽  
Vol 60 (1) ◽  
pp. 5-10 ◽  
Author(s):  
Danijela Radivojevic ◽  
Tanja Lalic ◽  
Marina Djurisic ◽  
Marija Guc-Scekic ◽  
P. Minic ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Autosomal Recessive ◽  
Haplotype Analysis ◽  
Autosomal Recessive Disease ◽  
Strong Linkage Disequilibrium ◽  
Tetranucleotide Repeat ◽  
Haplotype Association ◽  
Cftr Mutations ◽  
Haplotype 1

Cystic fibrosis (CF) is the most common fatal autosomal recessive disease in Caucasians. Since characterization of F508del, the predominant mutation in different countries, more than 1500 mutations have been discovered in the CFTR gene, including a large number of polymorphisms. After molecular screening of 222 CF patients from Serbia, we detected 21 different CFTR mutations, F508del being the most frequent (69.59% of CF alleles). A total of 21 mutations cover almost 80% of CF alleles in this group. Since the molecular basis of CF is highly heterogeneous in our population, studying the haplotype association with normal and CF chromosomes could be very helpful in all cases where one or both mutations remain unidentified. Haplotype analysis was done using six diallelic sites and one tetranucleotide repeat (XV2C-KM19-MP6D9-J44-IVS6a(GATT)-M470V-T854T) on 99 F508del, 90 non-F508del, and 105 normal chromosomes. Strong linkage disequilibrium was observed for CFTR mutations and one haplotype (1-2-2-1-6(2)-1-1), while normal chromosomes were mostly associated with another (1-1-2-1-6(2)-1-2). The obtained results show that in most cases it would be possible with this group of polymorphisms to separate normal chromosomes from chromosomes which carry the CFTR mutation. As far as prenatal diagnosis of cystic fibrosis is concerned, haplotype analysis can be used as a helpful method of indirect diagnosis in families at risk with one or both CF alleles uncharacterized.

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