Prenatal diagnosis of cystic fibrosis in a highly heterogeneous population.

Abstract excerpt

Cystic fibrosis (CF) is the most common autosomal recessive disease in Caucasian populations. The Spanish CF population is highly heterogeneous, with more than 70 different mutations causing CF. Since the CFTR gene was cloned, we have performed 81 prenatal diagnoses for 74 couples. Sixty-nine cases had a high risk (1/4) for CF and 12 presented a lower risk (1/240). Direct analysis was possible in 36 cases (44.4...

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