Stankovics J, Melegh B, Kosztolányi G
Pécsi Orvostudományi Egyetem, Gyermekklinika.
Orv Hetil. 1996 Nov 3;137(44):2451-3.
Cystic fibrosis (CF) is one of the most frequent (1:2500), potentially lethal autosomal recessive diseases among Caucasians. Molecular genetic examination has become the most valuable method used for diagnosis or population screening. 300 newborns treated in the Perinatal Intensive Care Unit were examined for the mutation delta F508. The results showed that the frequency of affected deltaF508 homozygotes was 1:100, which is significantly higher than found in the general population, but the frequency of carriers (1:33) is similar to the overall value.
囊性纤维化（CF）是高加索人群中最常见的（1:2500）潜在致死性常染色体隐性疾病之一。分子遗传学检查已成为用于诊断或群体筛查的最有价值的方法。对在围产期重症监护病房接受治疗的300名新生儿进行了ΔF508突变检测。结果显示，受影响的ΔF508纯合子频率为1:100，显著高于普通人群，但携带者频率（1:33）与总体值相似。
