Муковисцидоз

Группа заболевания: Болезни органов пищеварения

Были исследованы мутации в следующих генах:

CFTR c.19G>T (rs121909045), c.170G>A (rs147822203), c.171G>A (rs121909025), c.178G>T (rs77284892), c.223C>T (rs121908749), c.254G>A (rs75961395), c.292C>T, c.326A>G (rs121909031), c.328G>T (rs113993958), c.349C>T (rs77834169), c.531delT (rs121908771), c.532G>A (rs80282562), c.595C>T (rs121908802), c.617T>G (rs121908752), c.655_676delGGAGAATGATGATGAAGTACAG (rs121908804), c.805_806delAT (rs121908773), c.933C>G (rs121909016), c.948delT (rs75528968), c.988G>T (rs79031340), c.1000C>T (rs121909011), c.1013C>T (rs77409459), c.1029delC (rs121908774), c.1055G>A (rs121908753), c.1075C>A (rs76879328), c.1327_1330dupGATA (rs397508189), c.1400T>C (rs139573311), c.1438G>T (rs79282516), c.1477C>T (rs77101217), c.1545_1546delTA (rs121908776), c.1572C>A (rs121908754), c.1646G>A (rs121908755), c.1657C>T (rs74597325), c.1675G>A (rs75549581), c.1679G>C (rs80055610), c.1721C>A (rs121908758), c.2125C>T (rs121908760), c.2128A>T (rs75115087), c.2146A>T (rs121909023), c.2175dupA (rs121908787), c.2215delG, c.2290C>T (rs121908810), c.2353C>T (rs374946172), c.2479G>T (rs121909018), c.2538G>A (rs267606722), c.2551C>T (rs121909012), c.2668C>T (rs79633941), c.2739T>A (rs149790377), c.2845C>T (rs121909035), c.2875delG, c.3095A>G (rs144055758), c.3194T>C (rs121909036), c.3209G>A (rs78769542), c.3212A>C (rs121909037), c.3266G>A (rs78802634), c.3276C>A (rs121908761), c.3484C>T (rs74767530), c.3528delC (rs121908747), c.3536_3539delCCAA (rs121908782), c.3587C>G (rs121908763), c.3612G>A (rs121908765), c.3712C>T (rs121908766), c.3731G>T (rs267606723), c.3746G>A (rs121909040), c.3764C>A (rs76649725), c.3846G>A (rs77010898), c.3857T>C (rs121909028), c.3909C>G (rs80034486), c.3947G>A (rs121909010), c.4046G>A (rs193922525), c.4364C>G (rs121909043), c.4426C>T (rs374705585), c.1624G>T (rs113993959), c.1652G>A (rs75527207), c.350G>A (rs78655421)

Ссылки на источники