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Molecular Medicine Reports
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December 2012 Volume 6 Issue 6

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Article

Mutation of 3β-hydroxysteroid dehydrogenase (3β-HSD) at the 3'-untranslated region is associated with adrenocortical insufficiency

  • Authors:
    • Ying Pan
    • Shao Zhong
    • Ren-Ming Hu
    • Wei Gong
  • View Affiliations / Copyright

    Affiliations: Department of Endocrinology, Kunshan People's Hospital Affiliated to Jiangsu University, Kunshan, Jiangsu 215300, P.R. China, Department of Endocrine and Metabolic Diseases, Haishan Hospital Affiliated to Fudan University, Shanghai 200040, P.R. China
  • Pages: 1305-1308
    |
    Published online on: September 28, 2012
       https://doi.org/10.3892/mmr.2012.1107
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Abstract

In the present study, we report the mutation of the 3β-hydroxysteroid dehydrogenase (3β-HSD) gene in a family suffering from adrenocortical insufficiency. The index patient was clinically diagnosed with adrenocortical insufficiency. Peripheral venous blood (5 ml) was collected from the proband and 5 members of his family, and genomic DNA was extracted. Exons 1, 2, 3 and 4 of the 3β-HSD gene and their flanking sequences were amplified by polymerase chain reaction (PCR). Some of the family members were examined by amplifying only exon 4. The PCR products were then purified and sequenced. The C to T homozygous mutation at nucleotide 1088 and C to G homozygous mutation at nucleotide 1132 within exon 4 of the 3β-HSD gene were found in the family members with abnormal phenotype. In the family members with normal phenotype, heterozygous mutations at the sites mentioned above were identified in the parents and Aunt 1, but not in Aunt 2 of the proband. In conclusion, a family with 3β-HSD deficiency was identified in the present study. The cause of the disease in the studied family appears to be two novel homozygous mutations in the 3β-HSD gene.
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Copy and paste a formatted citation
Spandidos Publications style
Pan Y, Zhong S, Hu R and Gong W: Mutation of 3β-hydroxysteroid dehydrogenase (3β-HSD) at the 3'-untranslated region is associated with adrenocortical insufficiency. Mol Med Rep 6: 1305-1308, 2012.
APA
Pan, Y., Zhong, S., Hu, R., & Gong, W. (2012). Mutation of 3β-hydroxysteroid dehydrogenase (3β-HSD) at the 3'-untranslated region is associated with adrenocortical insufficiency. Molecular Medicine Reports, 6, 1305-1308. https://doi.org/10.3892/mmr.2012.1107
MLA
Pan, Y., Zhong, S., Hu, R., Gong, W."Mutation of 3β-hydroxysteroid dehydrogenase (3β-HSD) at the 3'-untranslated region is associated with adrenocortical insufficiency". Molecular Medicine Reports 6.6 (2012): 1305-1308.
Chicago
Pan, Y., Zhong, S., Hu, R., Gong, W."Mutation of 3β-hydroxysteroid dehydrogenase (3β-HSD) at the 3'-untranslated region is associated with adrenocortical insufficiency". Molecular Medicine Reports 6, no. 6 (2012): 1305-1308. https://doi.org/10.3892/mmr.2012.1107
Copy and paste a formatted citation
x
Spandidos Publications style
Pan Y, Zhong S, Hu R and Gong W: Mutation of 3β-hydroxysteroid dehydrogenase (3β-HSD) at the 3'-untranslated region is associated with adrenocortical insufficiency. Mol Med Rep 6: 1305-1308, 2012.
APA
Pan, Y., Zhong, S., Hu, R., & Gong, W. (2012). Mutation of 3β-hydroxysteroid dehydrogenase (3β-HSD) at the 3'-untranslated region is associated with adrenocortical insufficiency. Molecular Medicine Reports, 6, 1305-1308. https://doi.org/10.3892/mmr.2012.1107
MLA
Pan, Y., Zhong, S., Hu, R., Gong, W."Mutation of 3β-hydroxysteroid dehydrogenase (3β-HSD) at the 3'-untranslated region is associated with adrenocortical insufficiency". Molecular Medicine Reports 6.6 (2012): 1305-1308.
Chicago
Pan, Y., Zhong, S., Hu, R., Gong, W."Mutation of 3β-hydroxysteroid dehydrogenase (3β-HSD) at the 3'-untranslated region is associated with adrenocortical insufficiency". Molecular Medicine Reports 6, no. 6 (2012): 1305-1308. https://doi.org/10.3892/mmr.2012.1107
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