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

Susan M. Rowe, Sorcha J. Coughlan, Neil J. McKenna, Elaine Garrett, Dirk G. Kieback, Desmond N. Carney, Denis R. Headon

Research output: Contribution to a Journal (Peer & Non Peer)Articlepeer-review

113 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)2743-2745
Number of pages3
JournalCancer Research
Volume55
Issue number13
Publication statusPublished - 1 Jul 1995

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