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. Author manuscript; available in PMC: 2013 Aug 19.
Published in final edited form as: Cell Metab. 2013 Mar 5;17(3):448–455. doi: 10.1016/j.cmet.2013.02.001

Figure 3. Description of the Mutation.

Figure 3

(A) Whole-genome microsatellite linkage analysis. Details of chromosome 10, for which the LOD reached significance (LOD 4.1; whole-genome significance, LOD > 2.2). The length of the chromosome is given in centimorgans (cM). According to the UniSTS database, the region between microsatellite D10S210 and D10S537 contains the SIRT1 gene.

(B) Sanger sequence analysis of the mutation. DNA sequencing chromatograms obtained by direct sequencing of PCR products showing the presence of the heterozygous c.[320T > C] substitution in exon 1, not present in nonaffected members of the family and normal individuals (control, representative example out of 200 alleles). The roman numerals correspond to those in Figure 1A.

(C) SIRT1 gene structure and predicted protein structure.