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Detection of the cystic fibrosis delta-F508 mutation at autopsy by site-directed mutagenesis

✍ Scribed by Salcedo, Mauricio ;Chávez, Margarita ;Ridaura, Cecilia ;Moreno, Manuel ;Lezana, José L. ;Orozco, Lorena

Publisher
John Wiley and Sons
Year
1993
Tongue
English
Weight
305 KB
Volume
46
Category
Article
ISSN
0148-7299

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✦ Synopsis

Abstract

In Causasian populations cystic fibrosis (CF) is the most common autosomal recessive disorder. CF was previously considered rare in Mexico; however, the reported frequency is about 1% in autopsies. This discrepancy appears to be due to the inability to diagnose the illness during life. It is now known that in developing countries a great number of affected children die without the benefit of CF diagnosis and appropriate treatment. In this study we have used the PCR‐mediated sitedirected mutagenesis technique for the detection of the delta‐F508 mutation in a 6‐month old Mexican boy who died without definitive diagnosis. The tissue available from the child was a formaldehyde fixed paraffin‐embedded liver. We identified the delta‐F508 mutation in homozygous form in the propositus and in a heterozygous form in his parents. This represents the first report of CF molecular diagnosis in Mexico. © 1993 Wiley‐Liss, Inc.

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