These authors contributed equally to this work.
A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population
Article first published online: 2 SEP 2013
© 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
Volume 86, Issue 2, pages 155–160, August 2014
How to Cite
Webb, B.D., Brandt, T., Liu, L., Jalas, C., Liao, J., Fedick, A., Linderman, M.D., Diaz, G.A., Kornreich, R., Trachtman, H., Mehta, L. and Edelmann, L. (2014), A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population. Clinical Genetics, 86: 155–160. doi: 10.1111/cge.12247
The authors declare no conflicts of interest.
- Issue published online: 21 JUL 2014
- Article first published online: 2 SEP 2013
- Accepted manuscript online: 8 AUG 2013 08:04AM EST
- Manuscript Accepted: 2 AUG 2013
- Manuscript Revised: 1 AUG 2013
- Manuscript Received: 24 JUN 2013
- Bonei Olam
- Icahn School of Medicine
|cge12247-sup-0001-FigureS1.doc||Word document||98K||Fig. S1. Exclusion of X-Linked Alport syndrome by linkage analysis. Genotyping of seven polymorphic markers located on chromosome X was completed (DXS101, DXS1191, DXS1120, DXS1105, DXS456, DXS1059, and DXS1072). A parsimony approach was utilized for phasing haplotypes. The COL4A5 locus was excluded by linkage analysis. COL4A5 is located between markers DXS1105 and DXS456.|
|cge12247-sup-0002-FigureS2.doc||Word document||55K||Fig. S2. Genotyping of COL4A3 c.40_63del by PCR-based assay. Exon 1 of COL4A3 was amplified by PCR using the primers 5′-GACCGAGCCCTACAAAACC-3′ and 5′-GTGGAGGAGGGATGGAAGTG-3′ and run on 2.0% agarose gel. The expected product size is 282 base pairs for a wild-type product and 258 base pairs for the COL4A3 c.40_63del. An individual homozygous for the wild-type allele is shown in lane A, an individual heterozygous for the COL4A3 c.40_63del is shown in lane B, and an individual homozygous for the COL4A3 c.40_63del is shown in lane C. Samples with a presumed mutation were confirmed by Sanger sequencing.|
|cge12247-sup-0003-FigureS3.doc||Word document||343K||Fig. S3. Genotyping of COL4A3 c.40_63del by TaqMan assay. One thousand samples were plated in three 384 well plates with genomic DNA ranging between 1 ng and 20 ng per sample. The plates were dried and then the TaqMan Genotyping Master Mix (LTI) and the assay were added, bringing the final volume to 5 μL. The plates were then run on the GeneAmp® PCR System 9700 (LTI) at the following setting: holds at 50°C for 2 min and 95°C for 10 min, and then 40 cycles at 95°C for 15 s and 60°C for 1 min. Allelic discrimination was then performed on the ABI PRISM 7900 HT Sequence Detection System using sds 2.3 software (LTI) and the data was analyzed using TaqMan Genotyper v1.1 software (LTI). Five carriers were identified.|
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