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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 Insertion

  • Susan M. Rowe
  • , Sorcha J. Coughlan
  • , Neil J. McKenna
  • , Elaine Garrett
  • , Dirk G. Kieback
  • , Desmond N. Carney
  • , Denis R. Headon
  • University of Galway
  • Baylor College of Medicine
  • Mater Misericordiae University Hospital

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

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

  1. SDG 3 - Good Health and Well-being
    SDG 3 Good Health and Well-being

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