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Figure 5 | BMC Cardiovascular Disorders

Figure 5

From: Phenotype, origin and estimated prevalence of a common long QT syndrome mutation: a clinical, genealogical and molecular genetics study including Swedish R518X/KCNQ1families

Figure 5

The ancestral haplotype (x-axis) of 19 p.R518X index families (y-axis) was reconstructed, identifying 17 founder families (families JLN1-8, LQT1-9). An overview of the 14 analysed markers and their locations is given above. The C-terminal location of the p.R518X mutation in the KCNQ1 gene is indicated by the vertical black line. Shared alleles (4-14, median 7) are shaded in grey. The proportion of the founder alleles found in 168 control chromosomes is given for each marker (bottom). Families JLN9 and LQT10 shared only one of the downstream mutation-associated markers adjacent to the KCNQ1 gene, but between themselves shared six markers spanning over the KCNQ1 gene, indicating that these two families are related to each other.

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