Analysis of the COL1A1 and COL1A2 Genes by PCR Amplification and Scanning by Conformation-Sensitive Gel Electrophoresis Identifies Only COL1A1 Mutations.

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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, Lieve Nuytinck, James Earley, Darwin J. Prockop The American Journal of Human Genetics Volume 62, Issue 1, Pages 98-110 (January 1998) DOI: 10.1086/301689 Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 1 Schematic representation of the genomic organization of the human COL1A2 gene. The exons and introns are drawn to scale; the exact sizes are given for the introns. The American Journal of Human Genetics 1998 62, 98-110DOI: (10.1086/301689) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 2 CSGE assays of PCR products for heteroduplexes reflecting the presence of single-base changes in the COL1A1 gene. Samples are from probands described in tables 1 and 2. Dots indicate homoduplex and heteroduplex bands that are readily visible by UV illumination of the gels but that are difficult to reproduce by the image provided by the thermal printer of the UV-image analyzer. The American Journal of Human Genetics 1998 62, 98-110DOI: (10.1086/301689) Copyright © 1998 The American Society of Human Genetics Terms and Conditions