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Изучение муковисцидозом

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Cystic fibrosis (CF) is the most common autosomal recessive hereditary European disease. The incidence is 1:2,500 – 4,000 newborns. The child often has breathing difficulties which develop lung insufficiency. They produce viscous mucus which is a feat for any heavy infection. Children suffer from abdominal discomfort, low functioning of the intestines, hepar, pancreas and other organs. They live no more than 30 years.

The disease can manifest itself to parents who are both carriers of CF mutations. The risk is 25%. Every 30th person in Europe is a healthy carrier of CF.

Fertimed is certified for the detection of CF. We provide PCR detection for 36 mutations, which cover 91% of the mutations found in EC population.

We examine mutations and polymorphism of the CFTR gene:

DF508, DI507, F508C, I502T, 1706del17, 1677delTA, G542X, R553X, Q552X, G551D, S549RA>C, 2183AA>G, N1303K, 4016insT, 3849+10kbC>T, 711+5G>A, 1717-1G>A, R553X, Q552X, 711+1G>T, 2789+5G>A, W1282X, G1244E, 621+1G>T, R117H, 852del22, T338I, R347P, 1259insA, R1066H, L1065P, L1077P, X1152H, 4382delA, R1162X,R1158X, G85E, S912X and polymorphism T, I148T, 3199del6.

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