Mutational analysis of the melanocortin-4 receptor (MC4R) gene in children with premature pubarche and adolescent girls with hyperandrogenism.
To determine if variants in the melanocortin-4 receptor (MC4R) gene are associated with premature pubarche (PP) in children and hyperandrogenism (HA) in adolescent girls, we performed single-strand conformational polymorphism (SSCP) in 75 children (69 girls/six boys) with PP, 53 adolescent girls with HA, and 95 healthy adult control subjects. DNA sequence analysis of the conformers identified by SSCP revealed variants in six patients (two silent and one missense) and in none of the control subjects.
Roldan Martin
Maria Belen
MB
Division of Pediatric Endocrinology, Department of Pediatrics, and Department of Human Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania
White
Carlie
C
Kammerer
Candice
C
Witchel
Selma Feldman
SF
D000293:Adolescent; D016022:Case-Control Studies; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D017588:Hyperandrogenism / Q000235:genetics*; D008297:Male; D011629:Puberty, Precocious / Q000235:genetics*; D044105:Receptor, Melanocortin, Type 4 / Q000235:genetics*
D044105:Receptor, Melanocortin, Type 4