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Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations

Jarmo Körkkö, Leena Ala-Kokko, Anne De Paepe UGent, Lieve Nuytinck UGent, James Earley and Darwin J Prockop (1998) AMERICAN JOURNAL OF HUMAN GENETICS. 62(1). p.98-110
abstract
Although >90% of patients with osteogenesis imperfecta (OI) have been estimated to have mutations in the COL1A1 and COL1A2 genes for type I procollagen, mutations have been difficult to detect in all patients with the mildest forms of the disease (i.e., type I), In this study, we first searched for mutations in type I procollagen by analyses of protein and mRNA in fibroblasts from 10 patients with mild OI; no evidence of a mutation was found in 2 of the patients by the protein analyses, and no evidence of a mutation was found in 5 of the patients by the RNA analyses, We then searched for mutations in the original 10 patients and in 5 additional patients with mild OI, by analysis of genomic DNA, To assay the genomic DNA, we established a consensus sequence for the first 12 kb of the COL1A1 gene and for 30 kb of new sequences of the 38-kb COL1A2, gene, The sequences were then used to develop primers for PCR for the 103 exons and exon boundaries of the two genes, The PCR products were first scanned for heteroduplexes by conformation-sensitive gel electrophoresis, and then products containing heteroduplexes were sequenced, The results detected disease-causing mutations in 13 of the 15 patients and detected two additional probable disease-causing mutations in the remaining 2 patients, Analysis of the data developed in this study and elsewhere revealed common sequences for mutations causing null alleles.
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
subject
keyword
CDNA, MICE, REPEATS, CONSERVATION, RNA, REGION, DNA, CHAIN, PROCOLLAGEN, PRO-ALPHA-2(I) COLLAGEN GENE
journal title
AMERICAN JOURNAL OF HUMAN GENETICS
Am. J. Hum. Genet.
volume
62
issue
1
pages
98 - 110
Web of Science type
Article
Web of Science id
000072127900015
ISSN
0002-9297
language
English
UGent publication?
yes
classification
A1
copyright statement
I have transferred the copyright for this publication to the publisher
id
176673
handle
http://hdl.handle.net/1854/LU-176673
alternative location
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1376813/
date created
2004-01-14 13:40:00
date last changed
2016-12-19 15:38:58
@article{176673,
  abstract     = {Although {\textrangle}90\% of patients with osteogenesis imperfecta (OI) have been estimated to have mutations in the COL1A1 and COL1A2 genes for type I procollagen, mutations have been difficult to detect in all patients with the mildest forms of the disease (i.e., type I), In this study, we first searched for mutations in type I procollagen by analyses of protein and mRNA in fibroblasts from 10 patients with mild OI; no evidence of a mutation was found in 2 of the patients by the protein analyses, and no evidence of a mutation was found in 5 of the patients by the RNA analyses, We then searched for mutations in the original 10 patients and in 5 additional patients with mild OI, by analysis of genomic DNA, To assay the genomic DNA, we established a consensus sequence for the first 12 kb of the COL1A1 gene and for 30 kb of new sequences of the 38-kb COL1A2, gene, The sequences were then used to develop primers for PCR for the 103 exons and exon boundaries of the two genes, The PCR products were first scanned for heteroduplexes by conformation-sensitive gel electrophoresis, and then products containing heteroduplexes were sequenced, The results detected disease-causing mutations in 13 of the 15 patients and detected two additional probable disease-causing mutations in the remaining 2 patients, Analysis of the data developed in this study and elsewhere revealed common sequences for mutations causing null alleles.},
  author       = {K{\"o}rkk{\"o}, Jarmo and Ala-Kokko, Leena and De Paepe, Anne and Nuytinck, Lieve and Earley, James and Prockop, Darwin J},
  issn         = {0002-9297},
  journal      = {AMERICAN JOURNAL OF HUMAN GENETICS},
  keyword      = {CDNA,MICE,REPEATS,CONSERVATION,RNA,REGION,DNA,CHAIN,PROCOLLAGEN,PRO-ALPHA-2(I) COLLAGEN GENE},
  language     = {eng},
  number       = {1},
  pages        = {98--110},
  title        = {Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations},
  url          = {http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1376813/},
  volume       = {62},
  year         = {1998},
}

Chicago
Körkkö, Jarmo, Leena Ala-Kokko, Anne De Paepe, Lieve Nuytinck, James Earley, and Darwin J Prockop. 1998. “Analysis of the COL1A1 and COL1A2 Genes by PCR Amplification and Scanning by Conformation-sensitive Gel Electrophoresis Identifies Only COL1A1 Mutations in 15 Patients with Osteogenesis Imperfecta Type I: Identification of Common Sequences of Null-allele Mutations.” American Journal of Human Genetics 62 (1): 98–110.
APA
Körkkö, J., Ala-Kokko, L., De Paepe, A., Nuytinck, L., Earley, J., & Prockop, D. J. (1998). Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations. AMERICAN JOURNAL OF HUMAN GENETICS, 62(1), 98–110.
Vancouver
1.
Körkkö J, Ala-Kokko L, De Paepe A, Nuytinck L, Earley J, Prockop DJ. Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations. AMERICAN JOURNAL OF HUMAN GENETICS. 1998;62(1):98–110.
MLA
Körkkö, Jarmo, Leena Ala-Kokko, Anne De Paepe, et al. “Analysis of the COL1A1 and COL1A2 Genes by PCR Amplification and Scanning by Conformation-sensitive Gel Electrophoresis Identifies Only COL1A1 Mutations in 15 Patients with Osteogenesis Imperfecta Type I: Identification of Common Sequences of Null-allele Mutations.” AMERICAN JOURNAL OF HUMAN GENETICS 62.1 (1998): 98–110. Print.