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Ovarian Carcinoma-associated TaqI Restriction Fragment Length Polymorphism in Intron G of the Progesterone Receptor Gene Is Due to an Alu Sequence Insertion¹

Cell and Molecular Biology Group, Department of Biochemistry, University College Galway, Galway, Ireland [S. M. R., S. J. C., N. J. M., E. G., D. R. H.]; Departments of Obstetrics and Gynecology and Cell Biology, Baylor College of Medicine, Houston, Texas 77030 [D. G. K.]; and Department of Oncology, Mater Misericordiae Hospital, Dublin 7, Ireland [D. N. C.]

Alu sequences, short, repetitive transposable DNA elements, are factors in a number of genetic diseases. We previously identified a germline TaqI RFLP, located in intron G of the human progesterone receptor gene, that showed an association with the incidence of sporadic ovarian carcinoma. Furthermore, the polymorphism was characterized as a small (300-bp) insertion that was inherited in a Mendelian fashion. Because of its insertional character, we named this polymorphism PROGINS. We report the identification of PROGINS as a 306-bp Alu element of the PV or HS-1 Alu subfamily.

¹ This work was supported in part by a United Kingdom-Ireland Postgraduate Exchange Scholarship (to N. J. M.), grants from the Health Research Board, Ireland (to E. G. and D. R. H.) and from the Irish Cancer Society (to D. R. H.).

² To whom requests for reprints should be addressed.

Received 4/24/95. Accepted 5/19/95.

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