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

S M Rowe; S J Coughlan; N J McKenna; E Garrett; D G Kieback; D N Carney; D R Headon

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.

Authors

S M Rowe¹, S J Coughlan, N J McKenna, E Garrett, D G Kieback, D N Carney, D R Headon

Affiliation

¹ Department of Biochemistry, University College Galway, Ireland.

PMID: 7796397

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 (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

Substances

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

Associated data

GENBANK/Z49816