青春期阴毛早现患儿及雄激素增高症少女黑皮素-4受体(MC4R)基因突变分析

摘要

To determine if variants in the melanocortin-4 receptor (M-C4R) gene are associated with premature pubarche (PP) in children and hyperandrogenism (HA) in adolescent girls, we performed single-strand conformational polymorphism (S-SCP) 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.