Skip to main content
. 2001 Apr 20;68(6):1497–1500. doi: 10.1086/320595

Figure 1.

Figure 1

Identification of SLC6A8 nonsense mutations in a white family with creatine-transporter deficiency. a, Pedigree. Affected individuals are indicated by completely blackened symbols, symptomatic carriers by half-blackened symbols, and the asymptomatic carrier by the dot within a circle. b, Sequence analysis of DNA of the normal control, the mother of the index patient (individual “2-1” in panel a), and the index patient (individual “3-1” in panel a). DNA was isolated from fibroblasts by DNAzol (GibcoBRL). PCR reactions were performed with HotstarTaq (Qiagen), in a PE Applied Biosystems model 9700. PCR products were purified with PCR cleanup columns (Millipore). Subsequently, these purified PCR products were sequenced by capillary electrophoresis, on an ABI PRISM 310 with the Big Dye terminator-cycle sequencing kit (Perkin Elmer). Sequence analysis of part of exon 11—codons 512–516 (GenBank accession number NM_005629)—shows that the C→T transition, 15239C→T, results in a 514R→X replacement. The index patient (individual “3-1” in panel a) is hemizygous for this nonsense mutation, and the three females (individuals “1-1,” “2-1,” and “2-3” in panel a) are heterozygous for this nonsense mutation.