An inherited non-amyloidogenic transthyretin variant, [Ser6]-TTR, with increased thyroxine-binding affinity, characterized by DNA sequencing.
Amplification and sequencing of the four transthyretin (TTR) exons of a subject with a variant TTR with four-fold increased affinity for thyroxine revealed a heterozygous G to A point mutation at base 7 of exon 2. This results in a serine for glycine change at residue 6 of the mature TTR monomer. No other mutations were found in any exon. Amplification and MspI digestion of TTR exon 2 from the leucocyte DNA of eight members of the subject's family revealed that all but one member were also heterozygous for [Ser6]-TTR.
Fitch
N J
NJ
Department of Medicine, University of Birmingham, Queen Elizabeth Hospital, Edgbaston.
Akbari
M T
MT
Ramsden
D B
DB
D004247:DNA / Q000032:analysis; D005091:Exons / Q000502:physiology*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation / Q000502:physiology; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011228:Prealbumin / Q000235:genetics* / Q000378:metabolism; D013974:Thyroxine / Q000378:metabolism*
D011228:Prealbumin; D004247:DNA; D013974:Thyroxine