A fourth example suggests that premature termination codons in the COL2A1 gene are a common cause of the Stickler syndrome: Analysis of the COL2A1 gene by denaturing gradient gel electrophoresis
Journal Article
·
· Genomics; (United States)
- Univ. of Oulu (Finland)
- Univ. of Helsinki (Finland)
- Thomas Jefferson Univ., Philadelphia, PA (United States)
- Univ. of Oulu (Finland) Thomas Jefferson Univ., Philadelphia, PA (United States)
A series of oligonucleotide primers was designed to generate polymerase chain reaction products that contained exons 6 to 49 of the human gene for type II procollagen (COL2A1) and that could be used to detect sequence variations by denaturing gradient gel electrophoresis. To improve the sensitivity of the analysis, GC clamps were introduced into one primer of each pair. The procedure successfully detected 10 neutral single-base variations in the gene. In addition, the procedure detected a single-base deletion in exon 43 that introduced a premature termination codon in exon 44 and caused the Stickler syndrome (arthro-ophthalmopathy) in one family. The mutation is the fourth mutation in the COL2A1 gene shown to cause the Stickler syndrome. The mutation is similar to the first three mutations causing the disease in that they also introduced premature termination signals. Since only one mutation introducing a premature termination codon was found in the course of defining 120 or more mutations in type I and III procollagens, the results suggest that such mutations may have a special relationship to the Stickler syndrome. 13 refs., 3 figs., 1 tab.
- OSTI ID:
- 7035412
- Journal Information:
- Genomics; (United States), Journal Name: Genomics; (United States) Vol. 17:1; ISSN 0888-7543; ISSN GNMCEP
- Country of Publication:
- United States
- Language:
- English
Similar Records
A second mutation in the type II procollagen gene (COL2A1) causing Stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon
Analysis of four families with the Stickler syndrome by linkage studies. Identification of a new premature stop codon in the COL2A1 gene in a family
Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy)
Journal Article
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Thu Dec 31 23:00:00 EST 1992
· American Journal of Human Genetics; (United States)
·
OSTI ID:6613617
Analysis of four families with the Stickler syndrome by linkage studies. Identification of a new premature stop codon in the COL2A1 gene in a family
Journal Article
·
Thu Sep 01 00:00:00 EDT 1994
· American Journal of Human Genetics
·
OSTI ID:134734
Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy)
Journal Article
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Thu Aug 01 00:00:00 EDT 1991
· Proceedings of the National Academy of Sciences of the United States of America; (United States)
·
OSTI ID:5701556