Use of polymerase chain reaction in detection of growth hormone gene deletions

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,...

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Bibliographic Details
Published inThe journal of clinical endocrinology and metabolism Vol. 70; no. 6; p. 1550
Main Authors Vnencak-Jones, C L, Phillips, 3rd, J A, Wang, D F
Format Journal Article
LanguageEnglish
Published United States 01.06.1990
Subjects
Adolescent
Base Sequence
Child
Chromosome Deletion
Electrophoresis, Polyacrylamide Gel
Female
Growth Disorders - diagnosis
Growth Hormone - deficiency
Growth Hormone - genetics
Humans
Infant
Male
Molecular Sequence Data
Pedigree
Polymerase Chain Reaction
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Summary: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.
ISSN:0021-972X
DOI:10.1210/jcem-70-6-1550