Thyroxine-binding prealbumin gene polymorphism: a population study.
The human thyroxine-binding prealbumin (TBPA) gene was examined for restriction fragment length polymorphism (RFLP) in normal subjects and a subject with euthyroid hyperthyroxinaemia, due to increased thyroxine binding by TBPA, using 16 restriction enzymes. Only Taq I and Msp I were shown to detect RFLPs. In a male of the normal population and one of his daughters, an additional Taq I site was found in the 3'-flanking region of the TBPA gene. The RFLP in a subject with euthyroid hyperthyroxinaemia was due to the deletion of a MspI site. All three subjects with RFLPs were heterozygous.
Akbari
M T
MT
Department of Medicine, University of Birmingham, Queen Elizabeth Hospital, UK.
Fitch
N J
NJ
Farmer
M
M
Docherty
K
K
Sheppard
M C
MC
Ramsden
D B
DB
D000328:Adult; D002872:Chromosome Deletion; D003201:Computers; D004587:Electrophoresis, Agar Gel; D005091:Exons / Q000235:genetics; D005260:Female; D005796:Genes / Q000235:genetics; D006801:Humans; D006981:Hyperthyroxinemia / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D012150:Polymorphism, Restriction Fragment Length; D011228:Prealbumin / Q000235:genetics*; D013975:Thyroxine-Binding Proteins / Q000235:genetics*
D011228:Prealbumin; D013975:Thyroxine-Binding Proteins