Genetic variants in the promoter region of the IGF-I gene as a reason for short stature.
DNA obtained from the blood cells of 88 adolescent patients with short stature, with low blood serum IGF-I concentrations, normal growth hormone (GH) secretion and normal GH receptor (GHR) structure, was analyzed in the promoter region for the IGF-I gene. A total of 24 genetic variants was detected in the DNA of 13 patients. An attempt was also made to analyze the impact of identified mutations on DNA-protein interactions using EMSA.
Kedzia
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A
2nd Department of Paediatrics, Karol Marcinkowski University of Medical Sciences, Poznań, Poland. hala6@o2.pl
Obrepalska-Steplowska
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A
Pacholska-Bogalska
J
J
Obara-Moszyńska
M
M
Korman
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Goździcka-Józefiak
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D020121:5' Untranslated Regions / Q000235:genetics; D000293:Adolescent; D001665:Binding Sites; D001827:Body Height / Q000235:genetics*; D002648:Child; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D005091:Exons / Q000235:genetics; D005260:Female; D014644:Genetic Variation; D006128:Growth / Q000235:genetics / Q000502:physiology; D006367:HeLa Cells; D006801:Humans; D007334:Insulin-Like Growth Factor I / Q000235:genetics*; D008297:Male; D011401:Promoter Regions, Genetic / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics
D020121:5' Untranslated Regions; D014157:Transcription Factors; D007334:Insulin-Like Growth Factor I; D004247:DNA