1990
DOI: 10.1210/jcem-70-6-1550
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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.

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Cited by 65 publications
(32 citation statements)
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“…None of these children produced a titer of anti-hGH antibodies sufficient to cause growth arrest (13). Studies among Chinese and Japanese subjects found a prevalence of hGH-1 gene deletions of 12% (three out of 26) and 0% (zero out of lo), respectively (10,14).…”
Section: Patientsmentioning
confidence: 98%
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“…None of these children produced a titer of anti-hGH antibodies sufficient to cause growth arrest (13). Studies among Chinese and Japanese subjects found a prevalence of hGH-1 gene deletions of 12% (three out of 26) and 0% (zero out of lo), respectively (10,14).…”
Section: Patientsmentioning
confidence: 98%
“…(10). Inasmuch as both hGH-1 and hCS-L reside in a 25-kb HindIIIThe PCR analysis has been done with oligonucleotide primers derived fragment, the size of the majority of the deletions (6.7 that anneal to the 5' and 3' ends of these homologous regions and 7.6 kb) can be determined after HindIII digestion of the (10). After amplification, 25 r L of each reaction mixture were DNA (4).…”
Section: Patientsmentioning
confidence: 99%
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“…Fishberg test resulted in normal and also the adrenocorticotropic hormone (ACTH) level was normal. Finally, GH gene (GH-1) analysis by the polymerase chain reaction (PCR) method (8) detected no defects of GHgenes.…”
Section: Case Reportmentioning
confidence: 99%
“…In 1981, deletions of 6.7 kilobases (kb) including the structural gene for GH-1 were documented in these patients by Southern blot analysis (2). More recently, GH gene deletions were diagnosed by polymerase chain reaction (PCR) techniques (3,4). In addition to deletions, frameshift and nonsense mutations of the GH gene have also been found in some subjects with this phenotype (for a review, see Ref.…”
Section: Introductionmentioning
confidence: 99%