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Department of Pediatrics, Vanderbilt University School of Medicine (C.L.V.-J., J.A.P.) Nashville, Tennessee 37232
The Department of Pediatrics, Shanghai Second Medical College (W.D.-f) Shanghai, China
Address all correspondence and requests for reprints to: John A. Phillips III, M.D., Division of Genetics, Vanderbilt University, T-2404 Medical Center North, Nashville, Tennessee 37232-2578.
Familial isolated GH deficiency type 1A (IGHD1A) results from deletion of both GH alleles. To facilitate detection of cases of IGHDlA, 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 IGHDlA among a cohort of seven Chinese subjects with severe growth retardation due to GHD.
* This work was supported in part by NIH Grant DK-35592 (to J.A.P.).
Received June 27, 1989.
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