ABSTRACT
Objective To detect the gene mutation of thyroid hormone receptor β ( TRβ ) in a family with thyroid hormone resistance syndrome.Methods The genomic DNA was extracted from peripheral blood leukocytes of the patient and his 5 family members.The exons 1-10 ofTRβ gene were amplified by PCR.The products of PCR were sequenced directly to detect the gene mutation.Results Two members of this family were confirmed to have the C y A transition mutation at nucleotide 1642 site within exon 10 of TRβ gene,which was a missense mutation causing the substitution of Proline to Threonine (P453T).The mutation was Heterozygous.Conclusions It was confirmed that the patient has TRβ gene mutation P453T in exon 10.The mutation may lead to the occurrence of thyroid hormone resistance syndrome.
ABSTRACT
300mg/d)were randomly divided into two groups:①Val group consisted of 20 cases(8M/12F),treated with Val 80~160mg/day.②Ben group 20 cases(9M/11F),treated with Ben 10~30mg/d.A goal of blood pressure(BP)control was 130/80mmHg or less in the two groups.Treatment period lasted for 8 weeks.The levels of UAE were measured by radioimmunoassay before and after treatment.We also measured Bp,fasting blood glucose,glycosylated hemoglobulin.Results After treatment of 8 weeks,Bp values in the two groups declined significantly compared with the pretreatment levels(P0.05).The levels of UAE in the two groups decreased significantly in comparison with pretreatment(P0.05).Val group seems to have lower adverse drug reaction rate.Conclusions The results indicate that Val has similar effects on reducing UAE in DN compared with Ben.And Val has fewer side effects.