Extended haplotype analysis of cystic fibrosis mutations and its implications for the selective advantage hypothesis

1993 ◽  
Vol 92 (3) ◽  
Author(s):  
Hagit Sereth ◽  
Tzipora Shoshani ◽  
Nurit Bashan ◽  
Bat-sheva Kerem
Keyword(s):  
Cystic Fibrosis ◽  
Haplotype Analysis ◽  
Selective Advantage ◽  
Extended Haplotype

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.

An assessment of the association between childhood asthma and HLA DRB1*03 using extended haplotype analysis

2010 ◽  
Vol 76 (6) ◽  
pp. 491-494 ◽  
Author(s):  
N. A. Hanchard ◽  
R. M. Jacobson ◽  
G. A. Poland ◽  
Y. J. Juhn
Keyword(s):  
Childhood Asthma ◽  
Haplotype Analysis ◽  
Extended Haplotype

scholarly journals Cystic fibrosis carriership and tuberculosis: hints toward an evolutionary selective advantage based on data from the Brazilian territory

2017 ◽  
Vol 17 (1) ◽  
Author(s):  
Lander Bosch ◽  
Barbara Bosch ◽  
Kris De Boeck ◽  
Tim Nawrot ◽  
Isabelle Meyts ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Selective Advantage

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

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

The selective advantage of cystic fibrosis heterozygotes tested by aDNA analysis: A preliminary investigation

2000 ◽  
Vol 15 (3-4) ◽  
pp. 255-262 ◽  
Author(s):  
B. Bramanti ◽  
L. Sineo ◽  
M. Vianello ◽  
D. Caramelli ◽  
S. Hummel ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Preliminary Investigation ◽  
Selective Advantage ◽  
Adna Analysis

Extended haplotype analysis in the HLA complex reveals an increased frequency of the HFE-C282Y mutation in individuals with multiple sclerosis

2004 ◽  
Vol 114 (6) ◽  
pp. 573-580 ◽  
Author(s):  
Justin P. Rubio ◽  
Niall Tubridy ◽  
Melanie Bahlo ◽  
Jim Stankovich ◽  
Rachel Burfoot ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Haplotype Analysis ◽  
C282y Mutation ◽  
Extended Haplotype

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
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