Vulliamy Tom, Marrone Anna, Szydlo Richard, Walne Amanda, Mason Philip J, Dokal Inderjeet
Department of Haematology, Division of Investigative Science, Imperial College London, Hammersmith Hospital, DuCane Rd, London W12 ONN, UK.
Nat Genet. 2004 May;36(5):447-9. doi: 10.1038/ng1346. Epub 2004 Apr 18.
Telomerase is a ribonucleoprotein complex that is required to synthesize DNA repeats at the ends of each chromosome. The RNA component of this reverse transcriptase is mutated in the bone marrow failure syndrome autosomal dominant dyskeratosis congenita. Here we show that disease anticipation is observed in families with this disease and that this is associated with progressive telomere shortening.
端粒酶是一种核糖核蛋白复合体，在每条染色体末端合成DNA重复序列时不可或缺。这种逆转录酶的RNA成分在骨髓衰竭综合征常染色体显性遗传性先天性角化不良中发生突变。我们在此表明，在患有这种疾病的家族中可观察到疾病早现现象，且这与端粒的逐渐缩短有关。
