Molecular Biological Methods in the Diagnosis of Growth Disorders

Molecular Biological Methods in the Diagnosis of Growth Disorders K.KJP. Hartmann Pediatric Endocrinology, Univemtaets-Kinderklinik Frankfurt/Main, Germany The development of new techniques especially in the field of molecular biology and protein chemistry has led to a more profound understanding of the impact of different hormones. In addition to the hormones themselves, their specific receptors and binding proteins have become a focus of interest surrounding recent research into human growth disorders. The mutation of the genes for growth hormone and growth hormone receptors as well as the regulation of the gene expression of these proteins has gained importance in the diagnosis of certain severe growth disorders. Growth hormone (GH), human chorionicsomatomammotropin (hCS) and prolactin (PRL) are related molecules. The amino acid sequence of GH and PRL are 35% identical whereas the sequences of GH and hCS are 85% identical. The genes for GH and hCS are located on chromosome 17, the gene for PRL is located on chromosome 6. A gene cluster for GH and hCS, composed of 2 GH and 2 hCS genes plus 1 hCS-similar gene, has been described on chromosome 17 /1-3/. The first GH gene (GH-1) encodes for the circulating, biologically active GH; in contrast, the GH-protein of GH-2 is 13 amino acid residues smaller http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Journal of Pediatric Endocrinology and Metabolism de Gruyter

Molecular Biological Methods in the Diagnosis of Growth Disorders

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Publisher
de Gruyter
Copyright
Copyright © 1993 by the
ISSN
0334-018X
eISSN
2191-0251
DOI
10.1515/JPEM.1993.6.1.1
Publisher site
See Article on Publisher Site

Abstract

K.KJP. Hartmann Pediatric Endocrinology, Univemtaets-Kinderklinik Frankfurt/Main, Germany The development of new techniques especially in the field of molecular biology and protein chemistry has led to a more profound understanding of the impact of different hormones. In addition to the hormones themselves, their specific receptors and binding proteins have become a focus of interest surrounding recent research into human growth disorders. The mutation of the genes for growth hormone and growth hormone receptors as well as the regulation of the gene expression of these proteins has gained importance in the diagnosis of certain severe growth disorders. Growth hormone (GH), human chorionicsomatomammotropin (hCS) and prolactin (PRL) are related molecules. The amino acid sequence of GH and PRL are 35% identical whereas the sequences of GH and hCS are 85% identical. The genes for GH and hCS are located on chromosome 17, the gene for PRL is located on chromosome 6. A gene cluster for GH and hCS, composed of 2 GH and 2 hCS genes plus 1 hCS-similar gene, has been described on chromosome 17 /1-3/. The first GH gene (GH-1) encodes for the circulating, biologically active GH; in contrast, the GH-protein of GH-2 is 13 amino acid residues smaller

Journal

Journal of Pediatric Endocrinology and Metabolismde Gruyter

Published: Jan 1, 1993

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