HYPO/HYPERADRENAL STATES

肾上腺低下/肾上腺亢进状态

• 批准号: 6282590
• 负责人: MARIA I. NEW
• 金额: $ 6.94万
• 依托单位: WEILL MEDICAL COLL OF CORNELL UNIV
• 依托单位国家: 美国
• 财政年份: 1997
• 资助国家: 美国
• 起止时间: 1997-01-06 至 1998-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6282590
• 关键词: clinical research; endocrine disorder diagnosis; enzyme activity; enzyme deficiency; family genetics; gene mutation; human subject; hydroxysteroid dehydrogenases; hyperadrenalism; hypoadrenalism; prenatal diagnosis; steroid metabolism

The continuation of a long-standing protocol conducting diagnostic studies on diverse endocrine disorders involving the adrenal cortex. The hypothesis underlying these studies is that precise correlation may be established between the clinical phenotype and the genotype in those conditions (a) for which the determinant gene has been established, and (b) for which a locus of mutation may be identified in the next period of investigation. We will continue to study prenatal diagnosis and treatment in families at risk for 21-hydroxylase deficiency and improve our capacity to make prenatal diagnoses by detection of unknown mutations in affected alleles. We will seek additional mutations by DNA sequencing when genotuype does not correlate with phenotype.

继续执行一项进行诊断研究的长期协议 各种涉及肾上腺皮质的内分泌失调 的 这些研究背后的假设是，精确的相关性可能是 在这些患者中建立临床表型和基因型之间的关系， 条件（a）已经确定了决定基因，和（B） 在下一个周期中可以鉴定出突变位点。 调查 我们将继续研究产前诊断和治疗 在有21-羟化酶缺乏症风险的家庭中， 进行产前诊断， 受影响的未知突变 等位基因。 我们将通过DNA测序寻找更多的突变， 基因型与表型无关。