SEARCH:   Advanced

Blood, Vol. 113, Issue 2, 309-316, January 8, 2009 This Article Abstract Full Text Services Email this article to a friend Alert me to new issues of the journal Rights and Permissions Citing Articles Citing Articles via CrossRef TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements Blood Du et al. 113: 309 Supplemental materials for: Du et al Files in this Data Supplement: Table S1. Additional primers used in sequencing of TERT and TINF2 gene (see also Du et al 2008)1 (PDF, 15.4 KB) Table S2. Variants in TERC found in 200 probands with BMF (PDF, 12.2 KB) Table S3. Variants in TERT found in 199 probands with BMF (PDF, 40.3 KB) Figure S1. Nucleotide changes identified in patients with BMF (JPG, 136 KB) - (A) Sequence variants identified in TERC. The TERC gene was sequenced in 200 patients with BMF. Each column represents a single nucleotide change. The locations of the nucleotide changes relative to the sequence encoding the mature TERC RNA are shown. (B) Sequence variants identified in TERT. The TERT gene was sequenced in 199 patients with BMF. Each column represents a single nucleotide change. The locations of the nucleotide changes relative to each individual exon are shown. Homozygous nucleotide changes are in red while heterozygous nucleotide changes are in blue. Hemizygosity are indicated with a slash. Figure S2. Pedigrees of two families with TERC mutation (JPG, 123 KB) - (A) Family with the T100A mutation. The age of each individual is indicated below the symbol. The probands are indicated with an arrow. A half filled symbol indicates heterozygosity for the mutation, while an open symbol represents homozygosity for the wild type allele. (B) Locations of the two mutations T100A and C35T in the TERC RNA. (C) Pedigree of a family with the C35T mutation. (D) Mutation analysis of family members of the patient with the C35T mutation. Genomic DNA was subjected to PCR and digested with a restriction nucleotide enzyme MscI. The extra fragment as indicated by the arrow identifies mutation carriers. (E) Telomere length measurements of PBMC from the patient with the C35T mutation and family members. Arrow indicates the patient. This Article Abstract Full Text Services Email this article to a friend Alert me to new issues of the journal Rights and Permissions Citing Articles Citing Articles via CrossRef

	Copyright © 2009 by American Society of Hematology         Online ISSN: 1528-0020