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Am J Med Genet. 1993 May 15;46(3):268-70.

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

Author information

1
Depto. de Investigación en Genética Humana, Instituto Nacional de Pediatría, México, D.F.

Abstract

In Caucasian 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 site-directed 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.

PMID:
8488869
DOI:
10.1002/ajmg.1320460305
[Indexed for MEDLINE]

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