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From: Sodium Channel Mutations and Susceptibility to Heart Failure and Atrial Fibrillation JAMA. 2005;293(4):447-454. doi:10.1001/jama.293.4.447 Figure Legend: Phenotypic traits are variably expressed, designated by shaded quadrantswithin pedigree symbols. Genotypes for closely spaced DNA markers are shownas numbers, representing different lengths of short tandem repeat marker allelesthat distinguish the paternally and maternally inherited chromosomal region.Markers are located within the previously reported disease gene locus on chromosome3p22-p25. The distance of each marker from the p-arm telomere is indicatedby Mb (megabase). The 4 central markers (5-4-5-2) within the shaded chromosomesegment define a©haplotype, a group of alleles inherited as a unit, commonto all family Copyright 2005 American Medical Date of download: 5/2/2017 members with cardiac disease. Recombination events indicatethat the disease-causing gene resides between markers D3S3727 Association. All rights reserved. and D3S3559. SCN5A, located at 38.6-Mb, was investigated asa candidate gene. A point mutation in SCN5A that alters a From: Sodium Channel Mutations and Susceptibility to Heart Failure and Atrial Fibrillation JAMA. 2005;293(4):447-454. doi:10.1001/jama.293.4.447 Figure Legend: A, Heteroduplex mutation scans of exons comprising the entire codingregion of SCN5A were performed by denaturing highperformanceliquid chromatography (DHPLC). Heterozygous variation in DNA sequence wasdetected in exons 6, 16, 17, 21, and 27 for the 5 family probands in Figure 1 and Figure 3. In contrast to normal exons generating single peaks on chromatographicprofiles, exons harboring mutations had anomalous profiles characterized by2 peaks. B, To determine if detected variations were benign or pathogenic,genomic DNA sequencing was performed. In 4 theAmerican exons (exons 6, 16, 21,and 27), mutations were discovered in 1 Copyright © of 2005 Medical Date copy of ofdownload: the gene, 5/2/2017 resulting in aminoacid substitutions. In the remaining exon (exon 17), insertion of 2 basesdisrupts the coding Association. All rights reserved. sequence (only the mutant gene is shown). C, Regions inthe cardiac sodium channel protein altered by mutations were aligned From: Sodium Channel Mutations and Susceptibility to Heart Failure and Atrial Fibrillation JAMA. 2005;293(4):447-454. doi:10.1001/jama.293.4.447 Figure Legend: Haplotypes at the chromosome 3p locus where SCN5A is located are shown. Each shaded haplotype defines a chromosomalsegment that harbors a mutant SCN5A gene. In 2 families,point mutations caused amino acid substitutions: D1595H in DC-30 and T220Iin DC-31. In DC-26, the insertion of 2 bases in the mutant gene results ina truncated protein that terminates in a string of 18 anomalous amino acids(fs851 [frameshift at amino acid 851]; Figure 2C). In DC-96, neither of theproband’s parents and none of her 7 siblings had cardiac disease. Thehaplotypes her father (dark blue) and mother (light purple)are also Copyright © she 2005inherited Americanfrom Medical Date of download: inherited by other 5/2/2017 siblings, yet she is the only family member witha mutation in Association. All rights reserved.SCN5A. These findings indicate thatthe point mutation, R814W, arose as a spontaneous, or de novo, event on eitherthe paternal or maternal chromosome. SVT indicates