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聚合酶链反应在生长激素基因缺失检测中的应用。

Use of polymerase chain reaction in detection of growth hormone gene deletions.

作者信息

Vnencak-Jones C L, Phillips J A, Wang D F

机构信息

Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, Tennessee 37232.

出版信息

J Clin Endocrinol Metab. 1990 Jun;70(6):1550-3. doi: 10.1210/jcem-70-6-1550.

DOI:10.1210/jcem-70-6-1550
PMID:2347891
Abstract

Familial isolated GH deficiency type 1A (IGHD1A) results from deletion of both GH alleles. To facilitate detection of cases of IGHD1A, we have developed a rapid method that uses polymerase chain reaction amplification of small amounts of genomic DNA, digestion with a single restriction endonuclease, and visualization of DNA fragments after gel electrophoresis. Employing this method we have identified two subjects with IGHD1A among a cohort of seven Chinese subjects with severe growth retardation due to GHD.

摘要

1A型家族性孤立性生长激素缺乏症（IGHD1A）是由两个生长激素等位基因的缺失引起的。为便于检测IGHD1A病例，我们开发了一种快速方法，该方法利用聚合酶链反应扩增少量基因组DNA，用单一限制性内切酶进行消化，并在凝胶电泳后对DNA片段进行可视化分析。运用此方法，我们在一组因生长激素缺乏导致严重生长发育迟缓的7名中国受试者中，鉴定出2例IGHD1A患者。

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