Prenatal sexing and detection of zfy gene sequences in sex chromosome disorders by polymerase chain reaction

Specific amplification of a DNA segment of the human ZFY gene by polymerase chain reaction (PCR) was carried out for detection of Y‐chromosome specific sequences. When male DNA was used as template for amplification, a single and discrete 530 bp ethidium bromide staining band was observed in agarose gel. Female DNA produced no band. This technique was successfully used in prenatal sexing and for detecting ZFY DNA sequences in five XX males, an XY female, and a female patient with Turner syndrome having mosaicism involving a minute marker chromosome.