Wednesday, April 4, 2007

Spontaneous Beta-Thalassemia and Advanced Paternal Age

: Blood. 1989 Aug 1;74(2):852-4. Links
Characterization of a spontaneous mutation in beta-thalassemia associated with
advanced paternal age.Chehab FF, Winterhalter KH, Kan YW.
Howard Hughes Medical Institute, University of California, San Francisco 94143.

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.

PMID: 2665856 [PubMed - indexed for MEDLINE]



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