Document Detail

XV-2c/KM19 haplotypes analysis of cystic fibrosis patients from western Mexico.
MedLine Citation:
PMID:  18788470     Owner:  NLM     Status:  MEDLINE    
The analysis of polymorphic markers within or closely linked to the cystic fibrosis transmembrane regulator (CFTR) gene is useful as a molecular tool for carrier detection of known and unknown mutations. To establish the association between mutations in the CFTR gene in western Mexican cystic fibrosis (CF) patients, the distribution of XV2c/KM19 haplotypes was analyzed by PCR and restriction enzyme digestion in 384 chromosomes from 74 CF patients, their unaffected parents, and normal subjects. The haplotype analysis revealed that haplotype B was present in 71.9% of CF chromosomes compared to 0% of non-CF chromosomes. The F508del and G542X mutations were strongly associated with haplotype B (96.7% and 100% of chromosomes, respectively). The haplotype distribution of the CF chromosomes carrying other CFTR mutations had a more heterogeneous background. Our results show that haplotype B is associated with CFTR mutations. Therefore, haplotype analysis is a suitable alternate strategy for screening CF patients with a heterogeneous clinical picture from populations with a high molecular heterogeneity where carrier detection programs are not available. In addition, it may be a helpful diagnostic tool for genetic counseling and carrier detection in the relatives of CF patients and in couples who are planning to have children.
S E Flores-Martínez; J F Martínez; M V Machorro-Lazo; A G García-Zapién; L Salgado-Goytia; E G Cruz-Quevedo; M C Morán-Moguel; J Sánchez-Corona
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Acta physiologica Hungarica     Volume:  95     ISSN:  0231-424X     ISO Abbreviation:  Acta Physiol Hung     Publication Date:  2008 Sep 
Date Detail:
Created Date:  2008-09-15     Completed Date:  2008-10-20     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  8309201     Medline TA:  Acta Physiol Hung     Country:  Hungary    
Other Details:
Languages:  eng     Pagination:  313-25     Citation Subset:  IM    
División de Medicina Molecular, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, México.
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MeSH Terms
Cystic Fibrosis / genetics*
Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
Gene Frequency
Genetic Counseling
Genetic Testing
Infant, Newborn
Middle Aged
Point Mutation*
Reg. No./Substance:
0/CFTR protein, human; 126880-72-6/Cystic Fibrosis Transmembrane Conductance Regulator

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