Homozygosis for (12) CA repeats in the first intron of the human IFN-gamma gene is significantly associated with the risk of aplastic anaemia in Caucasian population.

@article{Dufour2004HomozygosisF,
  title={Homozygosis for (12) CA repeats in the first intron of the human IFN-gamma gene is significantly associated with the risk of aplastic anaemia in Caucasian population.},
  author={Carlo Dufour and Mario Capasso and Johanna Svahn and Agnese Marrone and Riccardo Haupt and Andrea Bacigalupo and Lucia Giordani and Daniela Valentina Longoni and Marta Pillon and Angela Pistorio and Paola Di Michele and Anna Paola Iori and Carola Pongiglione and Marina Lanciotti and Achille Iolascon},
  journal={British journal of haematology},
  year={2004},
  volume={126 5},
  pages={682-5}
}
Interferon-gamma (IFN-gamma) mediates the final damage of the stem cell compartment in Aplastic Anaemia (AA). Normal subjects homozygous for 12 (CA) repeats of polymorphism variable number of dinucleotide (CA) repeat (VNDR) in position 1349 of the IFN-gamma gene (IFNG) were shown to overproduce IFN-gammain vitro. We studied the distribution of polymorphism VNDR 1349 of IFNG in 67 Caucasian AA patients and in normal controls. Genotype (CA)12-12, (homozygosis for allele 2) and the single allele… CONTINUE READING

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