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Investigations of the molecular changes in genetic disease may make possible precise identification of heterozygotes, according to a report to the American College of Physicians.
Identification of heterozygotes is important to clinical geneticists as a forewarning of potentially pathological conditions, as an indication of need for genetic counseling to prevent diseased offspring, and as a means for studying a particular inherited defect.
"The ideal chemical means of heterozygote detection is the demonstration of molecular differences in normal and mutant gene products, as is illustrated in man by the hemoglobinopathies," said David C. Fainer, MD, Department of Medicine, University of California at Los Angeles School of Medicine.
Certain other methods of detection such as genetic linkage studies and in vitro culture of human tissues are potentially useful, but current techniques need much improvement.
Heterozygotes in autosomal recessive inheritance can sometimes be detected by pedigree analysis or by direct measurement of the
Precise Heterozygote Detection Possible in Future. JAMA. 1964;190(5):35. doi:10.1001/jama.1964.03070180091049