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目的:为了确认在有乳房发育过大和(或)至少持续1年的慢性波动性的乳房过早发育而无其他性早熟体征、骨骼发育异常或McCune-Albright综合征典型皮肤损害的女童的GNAS1基因突变。研究设计:笔者对前述23位女孩的白细胞DNA,应用等位基因特异性的聚合酶链反应和酶切技术研究了其GNAS1基因的突变。结果:14例女童有波动性乳房发育,9例女童为乳房发育过大。分子学研究表明6例女童在密码子201的精氨酸由组氨酸代替[R201H(+)]。3例R201H(+)女童在平均实足年龄为10.8岁时出现月经初潮,9例R201H (-)女童在平均年龄为11岁时出现月经初潮。结论:在一些有慢性波动性乳房过早发育和(或)乳房发育过大而无其他McCune-Albright综合征典型体征的女童可观察到GNAS1基因的活化突变。
OBJECTIVES: In order to confirm that the GNAS1 gene in girls with premature breast development, skeletal dysplasia or typical skin lesions of McCune-Albright syndrome prematurely developed in breasts with overextended and / or persistent chronic disease of at least 1 year mutation. Research Design: The author of the aforementioned 23 girls leukocyte DNA, alleles-specific allelic PCR and digestion technology to study its GNAS1 gene mutations. Results: Vibratory breast development was observed in 14 girls and breast enlargement in 9 girls. Molecular studies have shown that arginine at codon 201 of 6 girls was replaced by histidine [R201H (+)]. Three girls with R201H (+) had menarche at an average age of 10.8 years and nine men with R201H (-) had menarche at a mean age of 11 years. CONCLUSIONS: Activating mutations in the GNAS1 gene are observed in some girls who have chronic undulatory breast premature development and / or breast enlargement that is uncharacterized by other signs of the classic McCune-Albright syndrome.