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1.
Acta Academiae Medicinae Sinicae ; (6): 145-148, 2003.
Article in Chinese | WPRIM | ID: wpr-278110

ABSTRACT

<p><b>OBJECTIVE</b>To investigate association of mutation in WNK4 gene with essential hypertension and to analyze the expression of WNK4 gene.</p><p><b>METHODS</b>cSNP in WNK4 gene in a small samples was detected by sequencing, then PCR-RFLP was performed in 98 patients with essential hypertension and 95 control subjects. The expression profile of WNK4 gene was tested by RT-PCR.</p><p><b>RESULTS</b>A cSNP was detected in WNK4 gene exon7 G1662A, and there were significant differences in the distribution of allele frequency of G1662A between essential hypertension group and control group. WNK4 gene were expressed in the tissues of kidney, brain, lung, heart, spleen and intestine of fetus.</p><p><b>CONCLUSION</b>WNK4 gene is well correlated with essential hypertension.</p>


Subject(s)
Adult , Female , Humans , Male , Middle Aged , Brain , Metabolism , Gene Expression , Gene Frequency , Genes , Genetic Predisposition to Disease , Hypertension , Genetics , Kidney , Metabolism , Lysine , Genetics , Mutation , Phenotype , Protein Serine-Threonine Kinases , Genetics , RNA, Messenger , Genetics
2.
Chinese Journal of Medical Genetics ; (6): 490-494, 2003.
Article in Chinese | WPRIM | ID: wpr-329427

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the antiestrogenic effect of environment teratogen on the gene expression of insulin-like growth factors (IGFs) family in osteoblast cells during rat skeleton development.</p><p><b>METHODS</b>The fetal rat models with congenital skeleton malformation were constructed by treating 20 female Wistar rats with 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) on pregnant day 10. The MC-3T3-E1 cells were cultured with estrogen, TCDD, or a combination of the two chemicals for 24 hours. The IGF-II and IGFBP-6 mRNA levels in rat calvaria bone tissue and MC-3T3-E1 cells were detected by reverse transcription-polymerase chain reaction. Flow cytometer was used to determine the cell proliferation.</p><p><b>RESULTS</b>TCDD at the concentration of 5-15 microg/kg induced developmental skeleton defect of fetal rat, and the effect was dose-dependent. The expression of IGF-II mRNA gene was enhanced by estrogen in rat calvaria bone tissue and MC-3T3-E1 cells, whereas IGFBP-6 mRNA was decreased. Estrogen increased the cell proliferation in MC-3T3-E1 cells. TCDD, however, inhibited the effect of estrogen on regulation of IGF-II gene and IGFBP-6 gene as well as MC-3T3-E1 cell proliferation.</p><p><b>CONCLUSION</b>These findings provide the evidence that TCDD can induce congenital fetal skeleton malformation under the condition of high estrogen level in pregnant Wistar rats. TCDD has antiestrogenic effect and hence exerts negative influence on the osteoblast cells through target IGF-II and IGFBP-6 of IGFs family.</p>


Subject(s)
Animals , Female , Rats , Abnormalities, Drug-Induced , Bone and Bones , Congenital Abnormalities , Dose-Response Relationship, Drug , Estrogen Receptor Modulators , Toxicity , Insulin-Like Growth Factor Binding Protein 6 , Genetics , Insulin-Like Growth Factor II , Genetics , Osteoblasts , Metabolism , Polychlorinated Dibenzodioxins , Toxicity , RNA, Messenger , Rats, Wistar
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