We have initiated the screening of the delta F508 cystic fibrosis (CF) mutation in our country basing our study on the polymerase chain reaction technique. In a sample of 10 western and a northeastern Mexican families that have at least one CF affected child, we found a delta F508 frequency of 59.1% among CF chromosomes. This frequency is similar to those reported for Spain. Furthermore, we found a correlation between the delta F508 allele and pancreatic insufficiency. This paper points out the advantage of the polymerase chain reaction technology for the analysis of Mendelian disorders.
Titolo: | The molecular genetics of cystic fibrosis: the delta F508 allele in Mexican families / Genética molecular de la fibrosis quistica: el alelo delta F508 en familias mexicanas |
Autori: | Rojas-Martínez A.; Vázquez-Alemán R. M.; Gustincich S.; Cantú J. M.; Barrera-Saldaña H. A. |
Rivista: | |
Data di pubblicazione: | 1992 |
Volume: | 49 |
Fascicolo: | 6 |
Pagina iniziale: | 335 |
Pagina finale: | 341 |
URL: | https://www.ncbi.nlm.nih.gov/pubmed/1632907 |
Appare nelle tipologie: | 1.1 Journal article |
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