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Journal of Clinical Endocrinology & Metabolism, Vol 70, 1550-1553, Copyright © 1990 by Endocrine Society

ARTICLES

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

CL Vnencak-Jones, JA Phillips 3d and DF Wang
Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, Tennessee 37232.

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.


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