PMC6821475_01
Molecular analysis of genomic deoxyribonucleic acid identified a
homozygous one-base pair deletion in exon 3 of the TSHB gene that
creates a new restriction site for SnaBI. The wild-type allele remained
undigested (321 bp), whereas the mutant allele was cut into two
fragments of 235 (as shown in the figure) and 86 bp (not shown). Our
patient is homozygous for this mutation. Both parents and his sister are
heterozygous.
0103-0582-rpp-2019-37-4-00017-gf1.jpg
PMC6821475_01_0103-0582-rpp-2019-37-4-00017-gf1.jpg
f1
Peripheral blood was also collected from his parents and only sister, which resulted as heterozygous carriers of the mutant allele and had normal concentrations of TSH and free T4, displayed three fragments of 321, 235 and 86 bp (Figure 1).