GT repeat polymorphism in the 5' flanking region of the human growth hormone receptor gene.

Hadjiyannakis, S; Zheng, H; Hendy, G N; Goodyer, C G

Hadjiyannakis, S; Zheng, H; Hendy, G N; Goodyer, C G.

Afiliación

Hadjiyannakis S; Department of Pediatrics, McGill University, Montreal, Quebec, H3Z 2Z3, Canada.

Mol Cell Probes ; 15(4): 239-42, 2001 Aug.

Article en En | MEDLINE | ID: mdl-11513560

RESUMEN

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.

Asunto(s)

Regiones no Traducidas 5'/genética; Repeticiones de Dinucleótido/genética; Proteínas de la Membrana/genética; Polimorfismo Genético/genética; Alelos; Femenino; Frecuencia de los Genes; Marcadores Genéticos/genética; Trastornos del Crecimiento/genética; Heterocigoto; Humanos; Masculino

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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Polimorfismo Genético / Repeticiones de Dinucleótido / Regiones no Traducidas 5' / Proteínas de la Membrana Límite: Female / Humans / Male Idioma: En Revista: Mol Cell Probes Asunto de la revista: BIOLOGIA MOLECULAR / BIOTECNOLOGIA Año: 2001 Tipo del documento: Article País de afiliación: Canadá Pais de publicación: Reino Unido

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