Ovarian carcinoma-associated TaqI restriction fragment length polymorphism in intron G of the progesterone receptor gene is due to an Alu sequence insertion

Cancer Res. 1995 Jul 1;55(13):2743-5.


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 (approximately 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Base Sequence
  • Deoxyribonucleases, Type II Site-Specific
  • Female
  • Humans
  • Introns
  • Molecular Sequence Data
  • Ovarian Neoplasms / genetics*
  • Polymorphism, Restriction Fragment Length
  • RNA Splicing
  • Receptors, Progesterone / genetics*
  • Repetitive Sequences, Nucleic Acid


  • Receptors, Progesterone
  • Deoxyribonucleases, Type II Site-Specific
  • TCGA-specific type II deoxyribonucleases

Associated data

  • GENBANK/Z49816