Abstract
We have used a cDNA probe for human pancreas growth hormone releasing factor (GRF) to characterize GRF genes in DNA from normals and children with autosomal recesssive isolated growth hormone deficiency (IGHD) IB or multiple pituitary hormone deficiency (MPHD). Pvu II, which recognizes sites in the middle of both GRF cDNA sequences, generated 4 hybridizing fragments of similar intensity with lengths of 8.5, 4.5, 3.2 and 2.7 kb. The patterns produced by Pvu II in combination with 7 other enzymes were also inconsistent with a single GRF gene less than 6 kb in length and suggested 2 or more non-allelic GRF genes per haploid genome. In a search for genetic linkage markers, we digested DNA specimens representing 17 to 104 sets of normal chromosomes with 15 endonucleases which collectively screen for variation in a minimum of 280 base pairs. No variation in GRF fragment length or number was detected. Affected individuals in 5 pedigrees with IGHD IB and 3 pedigrees with MPHD did not show gross abnormalities of GRF gene fragments. We conclude that deletion of GRF genes is not a common genetic mechanism in these familial disorders. Identification of polymorphic variation in or near the GRF genes will be needed to determine whether these forms of GH deficiency are due to subtle alterations in GRF genes.
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Parks, J., Sexton, L., Slott, E. et al. GROWTH HORMONE RELEASING FACTOR GENE STRUCTURE IN GROWTH HORMONE DEFICIENCY. Pediatr Res 18 (Suppl 4), 172 (1984). https://doi.org/10.1203/00006450-198404001-00477
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DOI: https://doi.org/10.1203/00006450-198404001-00477
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