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

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.

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

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

scholarly journals Modifiers genes' influence in pulmonary disease in a group of Mexican patients with cystic fibrosis

2008 ◽  
Vol 7 ◽  
pp. S2
Author(s):  
M.D. Chavez ◽  
E. Yokoyama ◽  
V. Camilo ◽  
F. Cuevas ◽  
A. Carnevale ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Pulmonary Disease ◽  
Mexican Patients

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

Influence of SNPs in Genes that Modulate Lung Disease Severity in a Group of Mexican Patients with Cystic Fibrosis

2018 ◽  
Vol 49 (1) ◽  
pp. 18-26
Author(s):  
Emiy Yokoyama ◽  
Margarita Chávez-Saldaña ◽  
Lorena Orozco ◽  
Francisco Cuevas ◽  
José Luis Lezana ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Lung Disease ◽  
Disease Severity ◽  
Lung Disease Severity ◽  
Mexican Patients

Analysis of 16 cystic fibrosis mutations in Mexican patients

1997 ◽  
Vol 69 (4) ◽  
pp. 380-382 ◽  
Author(s):  
C. Villalobos-Torres ◽  
A. Rojas-Martínez ◽  
E. Villareal-Castellanos ◽  
J. M. Cantú ◽  
F. J. Sánchez-Anzaldo ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Mexican Patients
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