p.Y556C is a Recurrent Mutation in Pendred Syndrome causing Gene SLC26A4 in Punjabi Population
p.Y556C is a Recurrent Mutation in Pendred Syndrome causing Gene SLC26A4 in Punjabi Population
Sana Zahra
Pedigrees showing haplotypes of chromosome 7q microsatellite markers. The alleles forming the risk haplotype shaded black, and alleles not segregating with Pendred syndrome shown in white. The vertical lines shows recombination crosses at proximal and distal sides of linkage region. Squares: males; Circles: females; Filled symbols: affected individuals; Double line between individuals: consanguineous marriages and a diagonal line through the symbol: deceased person. Carriers of c.1667A>G share a common haplotype (black color) not observed in non-carrier members.
The forward and reverse sequence chromatograms of the c.11167A>G variation. The arrow indicates the mutation site (A) the affected individual (B) the heterozygous carrier (C) the wild type.
Sequence alignment of amino acid of pendrin subunit showing conservation of amino acids among other primates, placental mammals and vertebrates.
