Lack of mutations in the human telomerase RNA component (hTERC) gene in Fanconi's anemia.
As some patients with Fanconi s anemia (FA) present excessive telomere shortening correlating with poor outcome, we investigated whether human telomerase RNA component (hTERC) mutations also play a role in telomere shortening in 115 FA patients. Only one patient was heterozygous for the G58A polymorphism. No other mutation or deletion was found. We conclude that hTERC gene mutations do not contribute to telomere shortening in FA.
Calado
Rodrigo T
RT
Pintão
Maria-Carolina
MC
Rocha
Vanderson
V
Falcão
Roberto P
RP
Bitencourt
Marco A
MA
Silva
Wilson A
WA
Gluckman
Eliane
E
Pasquini
Ricardo
R
Zago
Marco A
MA
D001938:Brazil; D005006:Ethnicity; D005199:Fanconi Anemia / Q000097:blood / Q000235:genetics*; D005808:Genes, Recessive; D005816:Genetic Complementation Test; D006801:Humans; D019098:Telomerase / Q000235:genetics*; D044465:White People
D019098:Telomerase