Identification of a new thyroglobulin variant: a guanine-to-adenine transition resulting in the substitution of arginine 2510 by glutamine.
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.
Mendive
F M
FM
Laboratorio de Biologia Molecular, Hospital de Clínicas José de San Martín, Facultad de Farmacia y Bioquímica, Universidad de Buenos Aires, Argentina.
Rossetti
L C
LC
Vassart
G
G
Targovnik
H M
HM
D000225:Adenine; D000483:Alleles; D000818:Animals; D001120:Arginine / Q000235:genetics*; D002417:Cattle; D005787:Gene Frequency; D014644:Genetic Variation; D005973:Glutamine / Q000235:genetics*; D006042:Goiter / Q000235:genetics; D006147:Guanine; D006801:Humans; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D012194:RNA-Directed DNA Polymerase; D051381:Rats; D013954:Thyroglobulin / Q000235:genetics*; D013961:Thyroid Gland / Q000737:chemistry
D005973:Glutamine; D006147:Guanine; D013954:Thyroglobulin; D001120:Arginine; D012194:RNA-Directed DNA Polymerase; D000225:Adenine