Molecular diagnosis of A gamma hereditary persistence of fetal hemoglobin using polymerase chain reaction and oligonucleotide analysis.
By combining the polymerase chain reaction (PCR) of the gamma globin gene promoters with synthetic oligonucleotide analysis we have diagnosed the -196 C----T and the -117 G----A substitutions in heterozygous carriers of non deletional A gamma HPFH from two unrelated Italian families. The identification of the beta-thalassemic defect in a compound heterozygote for -196 A gamma HPFH/beta thalassemia allows us to discuss the effect of this gamma promoter mutation on the globin chain synthetic pattern, and to make a comparison with the mutation at the -117 position.
Dipartimento di Scienze Biomediche e Oncologia Umana, Università, Torino, Italy.
E
E
Gottardi
A
A
Alfarano
A
A
Serra
G
G
Sciarratta
M T
MT
Bertero
G
G
Saglio
C
C
Camaschella
D001483:Base Sequence; D005260:Female; D005319:Fetal Hemoglobin; D005784:Gene Amplification; D006580:Genetic Carrier Screening; D005914:Globins / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D015345:Oligonucleotide Probes; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011401:Promoter Regions, Genetic; D013789:Thalassemia / Q000175:diagnosis* / Q000235:genetics
D015345:Oligonucleotide Probes; D005914:Globins; D005319:Fetal Hemoglobin