par Mendive, Fernando ;Rossetti, L C;Vassart, Gilbert ;Targovnik, H. M.
Référence Thyroid, 7, 4, page (587-591)
Publication Publié, 1997-08
Référence Thyroid, 7, 4, page (587-591)
Publication Publié, 1997-08
Article révisé par les pairs
Résumé : | We analyzed thyroglobulin (Tg) reverse transcription polymerase chain reaction (RT-PCR) products from three congenital goiters and three normal thyroid tissues by Taq I digestion. Tg coding sequences were amplified from position 57 to 8448 in 12 amplification fragments. A Taq I restriction fragment length polymorphism was detected in the most 3' RT-PCR product (nt 7584 through 8448). Data from the sequence showed a G-->A transition (nt 7627) causing the disappearance of the Taq I site in position 7625. It produced the substitution of arginine for a glutamine at position 2510. Afterwards, we established that the glutamine allele is present in normal unrelated individuals, with an allelic frequency of 62%. This Tg variant is thus widely represented in the human population. The available sequence information from rat and bovine Tg showed the presence, in both, of glutamine at position 2510. |