Фенотипические и иммунологические особенности облигатных гетерозиготных носителей гена муковисцидоза

Le résumé fourni par la source

The frequency of appearance and structure of internal diseases were estimated as well as their genetic premises in 83 parents of patients with CF. These results were compared in 68 parents of patients suffering from lung diseases without genetic determination. This study showed that the character features of parents of CF patients who were obligate heterozygotes of CF gene is high frequency of respiratory (25%) and digestive (42%) diseases. The predisposition to lung diseases was higher in mothers of CF patients with ∆F508 mutation of CFTR gene. Haplotype HLA A1B40 was regarded as risk factor to forming lung diseases.

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.