Molecular Diagnostics: Past, present, and future

Abstract

Molecular diagnostics (MDx) is currently a clinical reality that has its roots deep in the study of gene function, structure, and regulation. The multitude of human mutations identified in the various genetic diseases can now be assayed in the clinical molecular diagnostics laboratory. The polymerase chain reaction (PCR) has facilitated the transition from the research to the clinical laboratory, however, many methods which scan and identify known mutations may not be applicable in a clinical environment. A few of these methods are discussed and one technology that is well suited for clinical use is suggested. Well-trained personnel, regulation of MDx laboratories, and automation are a few of the requirements that will carry us into the promising future of molecular diagnosis.

PRENATAL DIAGNOSIS OF Β-Thalassaemia AND SICKLE CELL ANAEMIA IN TURKEY

“…The most promising procedures, which are also amenable to automation, are non-radioactive and reverse dot-blot hybridizations and ARMS (Chehab, 1993). The isolation of fetal cells from the maternal circulation, which is one of the most recent innovations in the field of sample collection, will certainly have a great impact on prenatal diagnosis (Bianchi and Klinger, 1992).…”

Parallel molecular genetic analysis

“…89,90 In general the mutation detection methods can be grouped according to whether they are scanning or allele specific. Within the scanning methods, they can be grouped according to which principle of operation they employ.…”

Hemosiderosis with diabetes mellitus in untransfused hemoglobin H disease

“…This is in keeping with a Constant Spring mutation at the termination codon (UAA → CAA). PCR amplification of the ␤ gene was made and screening for the twelve common Chinese ␤ gene muta-tions using a reverse dot blot, allele specific hybridisation technique was negative [7]. The two common mutations, Cys282Tyr and His68Asp, of the HLA-H gene for hereditary hemochromatosis were screened using specific PCR primers for amplifications as described by Feder et al [8], followed by direct restriction enzyme analysis with either SnaB I or Mbo I respectively [9].…”