OVARIAN CARCINOMA-ASSOCIATED TAQI RESTRICTION-FRAGMENT-LENGTH-POLYMORPHISM IN INTRON-G OF THE PROGESTERONE-RECEPTOR GENE IS DUE TO AN ALU SEQUENCE INSERTION
Sm. Rowe et al., OVARIAN CARCINOMA-ASSOCIATED TAQI RESTRICTION-FRAGMENT-LENGTH-POLYMORPHISM IN INTRON-G OF THE PROGESTERONE-RECEPTOR GENE IS DUE TO AN ALU SEQUENCE INSERTION, Cancer research, 55(13), 1995, pp. 2743-2745
Alu sequences, short, repetitive transposable DNA elements, are factor
s in a number of genetic diseases, We previously identified a germline
TaqI RFLP, located in intron G of the human progesterone receptor gen
e, that showed an association with the incidence of sporadic ovarian c
arcinoma, Furthermore, the polymorphism was characterized as a small (
similar to 300-bp) insertion that was inherited in a Mendelian fashion
, Because of its insertional character, we named this polymorphism PRO
GINS. We report the identification of PROGINS as a 306-bp Alu element
of the PV or HS-1 Alu subfamily.