title: Use of polymerase chain reaction in detection of growth hormone gene deletions.
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.
authors.affiliation: Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, Tennessee 37232.
authors.forename: C L
authors.initials: CL
authors.lastname: Vnencak-Jones
authors.forename: J A
authors.initials: JA
authors.lastname: Phillips
authors.forename: D F
authors.initials: DF
authors.lastname: Wang
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D002648:Child; D002872:Chromosome Deletion; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D006130:Growth Disorders / Q000175:diagnosis*; D013006:Growth Hormone / Q000172:deficiency / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D016133:Polymerase Chain Reaction
chemical_list: D013006:Growth Hormone