Recent Advances in the Diagnosis of <I>PIT1</I> Abnormality
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概要
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<I>PIT1</I> abnormality is defined as a genetic abnormality in the <I>PIT1</I> gene, and results in various types of combined deficiencies of thyrotropin (TSH), growth hormone (GH), and prolactin (PRL). We have developed a rapid and nonisotopic procedure for sequencing the human <I>PIT1</I> gene. The protein coding regions of the <I>PIT1</I> gene were amplified by PCR, and the products were subjected to sequencing analysis using an autosequencer. With this procedure, we analyzed the <I>PIT1</I> gene in 17 cases treated with both hGH and thyroid hormone and in one familial case of GH deficiency. No alteration was observed in the protein coding regions of the <I>PIT1</I> gene of these patients.
- 日本小児内分泌学会の論文
日本小児内分泌学会 | 論文
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