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Nucleic Acids Research, 1991, Vol. 19, No. 15 4203-4207
© 1991

MOLECULAR BIOLOGY

Molecular diagnosis of sex chromosome aneuploidy using quantitative PCR

George Mutter1,2,* and Robert J. Pomponio1

1Department of Pathology, Brigham Women's Hospital Boston, MA 02115, USA 2Harvard Medical School Boston, MA 02115, USA

*To whom correspondence should be addressed at Department of Pathology, Brigham and Women's Hospital, 75 Francis Street, Boston, MA 02115, USA

Received April 4, 1991. Revised June 26, 1991. Accepted June 26, 1991.

Numeric sex chromosome imbalances, or aneuploidies, are present in several pathological conditions including tumors, abnormal gestations, and clinical syndromes. Here we report a method to identity karyotypic imbalances of the X and Y chromosomes using the polymerase chain reaction (PCR). The polymerase chain reaction was used to quantitatively coamplify the sex chromosome linked genes ZFX and ZFY. Quantitation was facilitated by 1) use of a single primer set which recognizes both templates, 2) incorporation of radiolabelled nucleotides during amplification, and 3) use of amplification conditions which minimize heteroduplex formation. High accuracy of the method was confirmed by concordance with values expected from titrated male and female DNAs and cells from patients with sex chromosome aneuploidy. This approach provides a rapid and reproducible method of evaluating relative abundance of allelic genes, and might be applied to detection of autosomal aneuploldy.


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