This Article Full Text (PDF) Submit a related Letter to the Editor Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Request Copyright Permission Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by VNENCAK-JONES, C. L. Articles by DE-FEN, W. Search for Related Content PubMed PubMed Citation Articles by VNENCAK-JONES, C. L. Articles by DE-FEN, W.

Use of Polymerase Chain Reaction in Detection of Growth Hormone Gene Deletions^*

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.

This article has been cited by other articles:

				K. S. Alatzoglou, J. P. Turton, D. Kelberman, P. E. Clayton, A. Mehta, C. Buchanan, S. Aylwin, E. C. Crowne, H. T. Christesen, N. T. Hertel, et al. Expanding the Spectrum of Mutations in GH1 and GHRHR: Genetic Screening in a Large Cohort of Patients with Congenital Isolated Growth Hormone Deficiency J. Clin. Endocrinol. Metab., September 1, 2009; 94(9): 3191 - 3199. [Abstract] [Full Text] [PDF]

				P. E Mullis Genetic control of growth Eur. J. Endocrinol., January 1, 2005; 152(1): 11 - 31. [Abstract] [Full Text] [PDF]

				A. Besson, S. Salemi, S. Gallati, A. Jenal, R. Horn, P. S. Mullis, and P. E. Mullis Reduced Longevity in Untreated Patients with Isolated Growth Hormone Deficiency J. Clin. Endocrinol. Metab., August 1, 2003; 88(8): 3664 - 3667. [Abstract] [Full Text] [PDF]

				G. Pinto, I. Netchine, M. L. Sobrier, F. Brunelle, J. C. Souberbielle, and R. Brauner Pituitary Stalk Interruption Syndrome: A Clinical-Biological-Genetic Assessment of Its Pathogenesis J. Clin. Endocrinol. Metab., October 1, 1997; 82(10): 3450 - 3454. [Abstract] [Full Text] [PDF]

				C. Vnencak-Jones and J. Phillips 3rd Hot spots for growth hormone gene deletions in homologous regions outside of Alu repeats Science, December 21, 1990; 250(4988): 1745 - 1748. [Abstract] [PDF]