MOLECULAR DIAGNOSIS OF CONGENITAL ADRENAL HYPERPLASIA--PHENOTYPE/GENOTPE

先天性肾上腺增生症的分子诊断--表型/基因型

• 批准号: 6115506
• 负责人: SELMA FELDMAN WITCHEL
• 金额: $ 2.06万
• 依托单位: CHILDREN'S HOSP PITTSBURGH/UPMC HLTH SYS
• 依托单位国家: 美国
• 财政年份: 1998
• 资助国家: 美国
• 起止时间: 1998-12-01 至 1999-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6115506
• 关键词: child (0-11); clinical research; congenital adrenal hyperplasia; endocrine disorder diagnosis; enzyme deficiency; gene mutation; genotype; hormone regulation /control mechanism; human genetic material tag; human subject; hypothalamic pituitary adrenal axis; oxygenases; pathologic process; phenotype

The congenital adrenal hyperplasias, especially 21-hydroxylase deficiency, are common inherited disorders of steroidogenesis. Correlation of clinical features with molecular genotype has provided a relatively good phenotype/genotype correlation. However, there are patients and families in which the phenotype differs from that predicted for the specific genotype. Investigation of families in which phenotype does not correlate with genotype will provide information about adrenal steroidogenesis. The high prevalence of heterozygosity for 21-hydroxylase deficiency (1/16) suggests the possibility of a heterozygote advantage. Studies are being developed to test this hypothesis.

摘要先天性肾上腺增生，尤其是21-羟化酶缺乏症，是一种常见的甾体生成遗传性疾病。临床特征与分子基因型的相关性提供了相对较好的表型/基因型相关性。然而，有些患者和家庭的表型与特定基因型的预测不同。对表现型与基因型不相关的家族的调查将提供有关肾上腺类固醇发生的信息。21-羟化酶缺乏症的高杂合度患病率（1/16）表明可能存在杂合子优势。目前正在开展研究来验证这一假设。