| GH-1 gene splicing mutations: molecular basis of hereditary isolated growth hormone deficiency in children. | |
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MedLine Citation:
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PMID: 17073157 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Children, residents of the Russian Federation, with congenital isolated growth hormone deficiency, were screened for mutations of GH-1 gene, the main gene of this deficiency. Twenty-eight children from 26 families with total congenital isolated growth hormone deficiency were examined. Direct sequencing of GH-1 detected five splicing mutations in intron 2, intron 3, and exon 4, two of them were never described previously. Three dominant negative mutations of GH-1 splicing, the basis for autosomal dominant isolated growth hormone deficiency (type II), are presented: IVS2 -2A>T, IVS3 +2T>C, and IVS3 +1G<A. GH-1 is the main gene of type II isolated growth hormone deficiency in patients living in the Russian Federation. All detected mutations of GH-1 impair splicing processes, which distinguishes them from mutations in other forms of isolated growth hormone deficiency. The detected variety of GH-1 splicing mutations attests to allele genetic heterogeneity of this pathology. The "hot spot" of mutations is 5'-donor splicing site of GH-1 intron 3, while IVS3 +IG>A mutation can be regarded as the most incident in type II isolated growth hormone deficiency in the Russian population. |
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Authors:
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O V Fofanova; O V Evgrafov; A V Polyakov; V A Peterkova; I I Dedov |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Bulletin of experimental biology and medicine Volume: 141 ISSN: 0007-4888 ISO Abbreviation: Bull. Exp. Biol. Med. Publication Date: 2006 Mar |
Date Detail:
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Created Date: 2006-10-31 Completed Date: 2006-12-29 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0372557 Medline TA: Bull Exp Biol Med Country: United States |
Other Details:
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Languages: eng Pagination: 347-52 Citation Subset: IM |
Affiliation:
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Endocrinological Research Center, Russian Academy of Medical Sciences. olga-vf@yandex.ru |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Base Sequence Child Child, Preschool DNA Primers Female Growth Hormone / deficiency*, genetics Humans Male Mutation* Pedigree RNA Splicing* |
| Chemical | |
Reg. No./Substance:
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0/DNA Primers; 9002-72-6/Growth Hormone |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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