Characterization of a spontaneous mutation in beta-thalassemia associated with advanced paternal age.
We characterized the molecular defect in a Swiss patient with a spontaneous beta-thalassemia mutation. Cloning and DNA sequencing of her beta-globin gene revealed a new frameshift mutation due to a single nucleotide deletion at codon 64 of the beta-globin gene. Restriction site polymorphism showed that the mutation arose on her paternal chromosome. Direct sequencing of a polymerase chain reaction amplified DNA segment showed absence of the lesion in both alleles of her father's beta-globin gene and confirmed the spontaneous nature of this mutation.
Chehab
F F
FF
Howard Hughes Medical Institute, University of California, San Francisco 94143.
Winterhalter
K H
KH
Kan
Y W
YW
D000328:Adult; D000375:Aging; D005260:Female; D005796:Genes; D006580:Genetic Carrier Screening; D005914:Globins / Q000235:genetics* / Q000502:physiology; D006801:Humans; D007328:Insulin / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010334:Paternity; D011110:Polymorphism, Genetic; D013789:Thalassemia / Q000097:blood / Q000235:genetics* / Q000503:physiopathology
D007328:Insulin; D005914:Globins