Document Detail


GT repeat polymorphism in the 5' flanking region of the human growth hormone receptor gene.
MedLine Citation:
PMID:  11513560     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A polymorphic GT dinucleotide repeat sequence has been identified in the 5' flanking region of the human growth hormone receptor (hGHR) gene on chromosome 5p13.1-p12, within the promoter region of the V9 5'UTR exon. Thirteen alleles have been identified in 50 non-related individuals, with an observed heterozygosity of 52%. The major allele contains 24 repeats, although a range of 19-32 repeats has been observed. Codominant segregation was demonstrated in five two-generation and two three-generation families. This marker may be useful in analysing the role of the hGHR gene in pre- and postnatal growth disorders.
Authors:
S Hadjiyannakis; H Zheng; G N Hendy; C G Goodyer
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Molecular and cellular probes     Volume:  15     ISSN:  0890-8508     ISO Abbreviation:  Mol. Cell. Probes     Publication Date:  2001 Aug 
Date Detail:
Created Date:  2001-08-21     Completed Date:  2001-10-18     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8709751     Medline TA:  Mol Cell Probes     Country:  England    
Other Details:
Languages:  eng     Pagination:  239-42     Citation Subset:  IM    
Copyright Information:
Copyright 2001 Academic Press.
Affiliation:
Department of Pediatrics, McGill University, Montreal, Quebec, H3Z 2Z3, Canada.
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MeSH Terms
Descriptor/Qualifier:
5' Untranslated Regions / genetics*
Alleles
Dinucleotide Repeats / genetics*
Female
Gene Frequency
Genetic Markers / genetics
Growth Disorders / genetics
Heterozygote
Humans
Male
Membrane Proteins / genetics*
Polymorphism, Genetic / genetics*
Chemical
Reg. No./Substance:
0/5' Untranslated Regions; 0/Genetic Markers; 0/Membrane Proteins; 0/delta-hGHR

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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