GST genotype may modify clinical phenotype in patients with Fanconi anaemia | Zendy

Davies Stella M. | Zendy; Radloff Gretchen A. | Zendy; DeFor Todd E. | Zendy; Levran Orna | Zendy; Batish Sat Dev | Zendy; Hanenberg Helmut | Zendy; Auerbach Arleen D. | Zendy

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GST genotype may modify clinical phenotype in patients with Fanconi anaemia

Author(s) -

Davies Stella M.,

Radloff Gretchen A.,

DeFor Todd E.,

Levran Orna,

Batish Sat Dev,

Hanenberg Helmut,

Auerbach Arleen D.

Publication year - 2005

Publication title -

british journal of haematology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.907

H-Index - 186

eISSN - 1365-2141

pISSN - 0007-1048

DOI - 10.1111/j.1365-2141.2005.05721.x

Subject(s) - genotype , phenotype , fanconi anemia , medicine , genotype phenotype distinction , genetics , biology , cancer research , immunology , gene , dna repair

Summary 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.

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