Utility of the polymerase chain reaction (PCR) for prenatal diagnosis of genetic disease

Applications of the polymerase chain reaction (PCR) to the diagnosis of pediatric pulmonary disease

“…Lindeman et d. 19 investigated the usefulness of this technique and showed that it agteed with conventional gene mapping. Arnplifkation has also been used for screening for CF on dried blood from Guthrie cards by mutation scanning of exons 10 and 1 I of the CFTR gene.…”

Prenatal Diagnosis of Hemoglobinopathies: From Fetoscopy to Coelocentesis

“…60 Restriction enzyme analysis of amplified DNA Many b-thalassemia alleles can be easily identified by restriction enzymes because mutations can create or abolish a restriction endonuclease site altering the normal pattern of digestion fragments visualized after electrophoretic separation on agarose or polycrylamide gel. 61 If a thalassemic allele does not present a specific restriction endonuclease site it is possible to create an artificial site adjacent to the point mutation during PCR using a primer inserting new bases into amplified product (amplification created restriction sites method). This method was applied to the detection of different b-thalassemia mutations especially for the second most common mutation in Mediterranean, IVS1 nt 110 defect.…”