Loss of heterozygosity of NF1 gene in juvenile chronic myelogenous leukemia with neurofibromatosis type 1.
To investigate a genetic relation between juvenile chronic myelogenous leukemia (JCML) and neurofibromatosis type 1 (NF-1), we analyzed the NF1 gene in the leukemic cells of a JCML patient with NF-1. We found a point mutation in exon 29 of one allele and a deletion of the other normal allele in the leukemic cells. The point mutation is considered a germline mutation because it was also detected in fibroblasts obtained from the bone marrow of the patient and the peripheral blood mononuclear cells from a sibling. A loss of heterozygosity of NF1 gene may contribute to the progression of leukemia in NF-1 patients.
Kai
S
S
Department of Pediatrics, Yokohama City University School of Medicine, Japan.
Sumita
H
H
Fujioka
K
K
Takahashi
H
H
Hanzawa
N
N
Funabiki
T
T
Ikuta
K
K
Sasaki
H
H
D000483:Alleles; D016514:Genes, Neurofibromatosis 1; D006801:Humans; D007223:Infant; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics*; D019656:Loss of Heterozygosity; D008297:Male; D017354:Point Mutation; D016133:Polymerase Chain Reaction