Naslov
Molecular diagnosis of the most common monogenic diseases:genetic and medical practice.

Autori
Sertić , Jadranka ; Barišić, Nina ; Babić, Tomislav ; Begović, Davor.

Izvornik
Periodicum biologorum (0031-5362) 106 (2004); 251-254

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, stručni

Ključne riječi
antenatal diagnosis; postnatal diagnosis; newborn screening; genomic DNA; quality control; cystic fibrosis; muscular dystrophy; spinal muscular atrophy; fragile X chromosome syndrome

Sažetak
Molecular genetics has been continuously developed to provide useful tools for antenatal and postnatal diagnosis of gene abnormalities linked to severe diseases, detection of carriers and modified carrier risks, newborn screening, identity studies, and fertility testing. Automated genetic instruments allow rapid molecular diagnosis of gene abnormalities, whereby genomic DNA is isolated from nucleated blood cells, chorionic villi, or amnionic fluid, and a particular gene region is amplified and genotyped by the use of fluorescent markers. Rapid DNA results are referred to the clinician within 1-2 days. DNA testing is performed according to the recommendations of international experts in a particular clinical entity, with monitoring of analytical quality control and result interpretation. Antenatal diagnosis is available for severe congenital disorders such as cystic fibrosis, muscular dystrophy, spinal muscular atrophy and fragile X chromosome syndrome.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA