[HTML][HTML] Genetic variation in telomeric repeat binding factors 1 and 2 in aplastic anemia
OBJECTIVE: Abnormal telomere shortening has been observed in a subset of individuals
with aplastic anemia (AA). We hypothesized that genetic variation in two genes critical in
telomere biology, TERF1 and TERF2, could be a risk factor for AA. METHODS: The proximal
promoter and all coding regions of TERF1 and TERF2 were sequenced in 47 individuals
with acquired AA. Regions with genetic variation were sequenced in an additional 95 AA
patients and 289 healthy controls. Single nucleotide polymorphism (SNP) frequencies were …
with aplastic anemia (AA). We hypothesized that genetic variation in two genes critical in
telomere biology, TERF1 and TERF2, could be a risk factor for AA. METHODS: The proximal
promoter and all coding regions of TERF1 and TERF2 were sequenced in 47 individuals
with acquired AA. Regions with genetic variation were sequenced in an additional 95 AA
patients and 289 healthy controls. Single nucleotide polymorphism (SNP) frequencies were …