| Autor: |
Davies, Stella M., Radloff, Gretchen A., DeFor, Todd E., Levran, Orna, Batish, Sat Dev, Hanenberg, Helmut, Auerbach, Arleen D. |
| Předmět: |
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| Zdroj: |
British Journal of Haematology; Oct2005, Vol. 131 Issue 1, p118-122, 5p |
| Abstrakt: |
In the search for genetic modifiers of the Fanconi anaemia (FA) phenotype, we examined the role of polymorphism in three glutathione s-transferase genes ( GSTT1, GSTM1 and GSTP1) in 356 FA patients enrolled in the International Fanconi Anaemia Registry (IFAR). Cellular sensitivity to 1,2:3,4 diepoxybutane was significantly increased in GSTT1 deleted compared with GSTT1 positive cases (median chromosomal breaks 11·1 vs. 8·3, P < 0·01) but there was no effect on clinical manifestations of FA. GSTM1 genotype significantly influenced time to bone marrow failure in complementation group FA-C, (median age 3·0 years vs. 7·0 years, P < 0·01). GSTP1 genotype did not influence FA phenotype. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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