Screening for mutations in the GH-1 gene by dideoxy fingerprinting (ddF)

Endocrine Journal

Volumn 46, Issue SUPPL., 1999, Pages

  Miyata, Ichiro ^a   Eto, Yoshikatsu ^a   Kamijo, Takashi ^b   Ogawa, Masamichi ^c   Futrakul, Aree ^d   Phillips III, John A ^e  

^a JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b Kami iida Daiichi General Hospital   (Japan)

^c NAGOYA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d MAHIDOL UNIVERSITY   (Thailand)

^e VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Dideoxy fingerprinting (ddF); GH mRNA splicing; GH 1 gene; Isolated GH Deficiency (IGHD)

Indexed keywords

AUTOSOMAL RECESSIVE DISORDER; CONFERENCE PAPER; DISEASE SEVERITY; DNA FINGERPRINTING; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC SCREENING; GROWTH HORMONE DEFICIENCY; HELA CELL; HUMAN; HUMAN CELL; INHERITANCE; MAJOR CLINICAL STUDY; POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING;

EID: 0032983877     PISSN: 09188959     EISSN: None     Source Type: Journal    
DOI: 10.1507/endocrj.46.suppl_s71     Document Type: Conference Paper

References (9)

1. Phillips JA III (1995) Inherited defects in growth hormone synthesis and action. The Metabolic and Molecular Bases of Inherited Disease 7: 3023-3044.
2. Mullis PE, Akinci A, Kanaka CH, Eble A, Brook CGD (1992) Prevalence of human growth hormone-1 gene deletions among patients with isolated growth hormone deficiency from different populations. Pediatr Res 31: 532-534.
3. Phillips JA III, Cogan JD (1994) Molecular basis of familial human growth hormone deficiency. J Clin Endocrinol Metab 78: 11-16.
4. Cogan JD, Phillips JA III, Sakati N, Frisch H, Schober E, Milner RDG (1993) Heterogeneous growth hormone (GH) gene mutations in familial GH deficiency. J Clin Endocrinol Metab 76: 1224-1228.
5. Cogan JD, Ramel B, Lehto M, Phillips JA III, Prince M, Blizzard RM, DeRavel TJL, Brammert M, Groop L (1995) A recurring dominant negative mutation causes autosomal dominant growth hormone deficiency - a clinical research center study. J Clin Endocrinol Metab 80: 3591-3595.
6. Binder G, Ranke MB (1995) Screening for growth hormone (GH) gene splice-site mutations in sporadic cases with severe isolated GH deficiency using ectopic transcript analysis. J Clin Endocrinol Metab 80: 1247-1252.
7. Miyata I, Cogan JD, Prince MA, Kamijo T, Ogawa M, Phillips JA III (1997) Detection of growth hormone gene defects by dideoxy fingerprinting (ddF). Endocr J 44: 149-154.
8. Cogan JD, Prince MA, Lekhakula S, Bundey S, Futrakul A, McCarthy EMS, Phillips JA III (1997) A novel mechanism of aberrant pre-mRNA splicing in humans. Hum Mole Genet 6: 909-912.
9. Sarkar G, Yoon HS, Sommer SS (1992) Dideoxy fingerprinting (ddF): A rapid and efficient screen for the presence of mutations. Genomics 13: 441-443.