Human genetics using PCR

PCR has also found extensive use in human genetics. Some of these uses include the following.

Prenatal diagnosis using PCR.

Prenatal diagnosis of sickle cell anemia with enhanced sensitivity was perhaps the first application of PCR for diagnosis of a human disease. Using PCR, this is done in less than one day in contrast to several days/weeks needed, when southern blots arc used for hybridization with a probe. The test has also been sed for diagnosis of phenylketonuria (PKU), -thalassemia, hemophilia, etc. The PCR product in all these cases is examined using a labelled probe, to suggest whether or n0t mutant sequence causing the disease is found. Sometimes, RFLP pattern of PCR products in healthy and defective feti (singular = fetus) differ, thus enabling prenatal diagnosis. In still other cases, PCR product may be sequenced to reveal the difference (for sequencing with PCR, consult).