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Egyptian Journal of Medical Human Genetics [The]. 2016; 17 (2): 223-228
en Inglés | IMEMR | ID: emr-180242

RESUMEN

Background: Human androgen receptor [AR] functions as a steroid-hormone activated transcription factor. The receptor binds to its ligand [testosterone or dihydrotestosterone] and is translocated to the nucleus to stimulate the transcription of androgen responsive genes. Mutations in the ligand binding domain [LBD] impair the receptor activity and play a crucial role in the development and progression of prostate cancer [PCa]


Materials and methods: This work was designated to investigate the restriction integrity of the LBD and its association with benign prostatic hyperplasia [BPH] and prostate cancer. Exons of this domain [exons: 4-8] were amplified from prostate tissue of BPH and PCa patients and the restriction polymorphism was investigated by SmlI, HphI and Tsp45I restriction enzymes in both BPH and PCa groups


Results: Data revealed the integrity of exons 4-6 in both BPH and PCa patients. Exons 7 and 8, however have kept their constitutional pattern only in BPH patients. Hph1 site showed an abnormal restriction pattern in 40% and 26.7% of PCa patients. Also, Tsp45I demonstrated restriction polymorphism in 20% and 13% of PCa patients


Conclusion:Our results indicate that the loss of the restriction integrity in the C-terminal part [exons: 7 and 8] of the LBD is associated with the progression of benign prostatic hyperplasia to prostate cancer


Asunto(s)
Anciano , Anciano de 80 o más Años , Humanos , Masculino , Persona de Mediana Edad , Hiperplasia Prostática/genética , Polimorfismo de Longitud del Fragmento de Restricción , Receptores Androgénicos , Sitios de Unión , Ligandos
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