课题基金 / 基金详情

HYPO/HYPERADRENAL STATES

HYPO/HYPERADRENAL STATES
肾上腺低下/肾上腺亢进状态
批准号：
6309715
负责人：
MARIA I. NEW
金额：
$12.81万
依托单位：
WEILL MEDICAL COLL OF CORNELL UNIV
依托单位国家：
美国
项目类别：
财政年份：
1999
资助国家：
美国
项目状态：
已结题
起止时间：
1999-12-01 至 2000-11-30
来源：
https://reporter.nih.gov/project-details/6309715
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

项目摘要

项目成果

MARIA I. NEW的其他基金

相关文献

中文摘要
翻译
继续对涉及肾上腺皮质的各种内分泌疾病进行诊断性研究的长期方案。这些研究的基础假设是，在以下情况下，临床表型和基因型之间可以建立精确的相关性：(A)决定基因已经确定，以及(B)在下一阶段的调查中可能确定突变位点。我们将继续研究21-羟基酶缺乏症高危家庭的产前诊断和治疗，并通过检测受影响等位基因的未知突变来提高产前诊断的能力。当基因与表型无关时，我们将通过DNA测序寻找更多的突变。
英文摘要
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 genotype does not correlate with phenotype.
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会议论文
MODIFIER GENES IN 21 HYDROXYLASE DEFICIENCY
HYPO- AND HYPERADRENAL STATES - SALT DEPRIVATION STUDY
HYPO- AND HYPERADRENAL STATES - SALT DEPRIVATION STUDY
NATURAL HISTORY OF RARE GENETIC STEROID DISORDERS