title: GT repeat polymorphism in the 5' flanking region of the human growth hormone receptor gene.
abstract: 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.affiliation: Department of Pediatrics, McGill University, Montreal, Quebec, H3Z 2Z3, Canada.
authors.forename: S
authors.initials: S
authors.lastname: Hadjiyannakis
authors.forename: H
authors.initials: H
authors.lastname: Zheng
authors.forename: G N
authors.initials: GN
authors.lastname: Hendy
authors.forename: C G
authors.initials: CG
authors.lastname: Goodyer
mesh_terms: D020121:5' Untranslated Regions / Q000235:genetics*; D000483:Alleles; D018900:Dinucleotide Repeats / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005819:Genetic Markers / Q000235:genetics; D006130:Growth Disorders / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*
chemical_list: D020121:5' Untranslated Regions; D005819:Genetic Markers; D008565:Membrane Proteins; C405010:delta-hGHR