Ovarian carcinoma-associated TaqI restriction fragment length polymorphism in intron G of the progesterone receptor gene is due to an Alu sequence insertion.
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.
Rowe
S M
SM
Department of Biochemistry, University College Galway, Ireland.
Coughlan
S J
SJ
McKenna
N J
NJ
Garrett
E
E
Kieback
D G
DG
Carney
D N
DN
Headon
D R
DR
D000483:Alleles; D001483:Base Sequence; D015252:Deoxyribonucleases, Type II Site-Specific; D005260:Female; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D010051:Ovarian Neoplasms / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D012326:RNA Splicing; D011980:Receptors, Progesterone / Q000235:genetics*; D012091:Repetitive Sequences, Nucleic Acid
D011980:Receptors, Progesterone; D015252:Deoxyribonucleases, Type II Site-Specific; C027046:TCGA-specific type II deoxyribonucleases