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Molecular genetic analysis is the only method that allows accurate detection of Cystic Fibrosis (CF) carriers. Nevertheless, its application is restricted to those families in which the affected child holds known mutations. Since most Chilean CF patients already studied are heterozygous and carry a mutation not yet characterized, direct identification of carriers is limited. Linkage analysis of Restriction Fragment Length Polymorphisms (RFLP), using DNA markers closely linked to the CFTR gene, is a useful tool for the detection of carriers in families in which the patient carries an unknown mutation.

revista médica de chile

Detección indirecta de portadores de fibrosis quística en dos familias chilenas mediante análisis de polimorfismos en el ADN asociados fuertemente al gen CFTR