Hb O-Arab [beta 121(GH4)Glu-->Lys]: association with DNA polymorphisms of African ancestry in two Mediterranean families.
Hb O-Arab [beta 121(GH4)Glu-->Lys] was detected in two Mediterranean families, one from Southern Italy and the other from Albania. The GAA-->AAA mutation at codon 121 was characterized by DNA sequencing. The mutant genes were associated with the same beta-globin gene framework variant and with the rare Hpa I/3' beta polymorphic restriction site generating a 7.0 kb fragment. However, at 5' the gene of the Italian family was associated with the restriction fragment length polymorphism subhaplotype [+ - - - +] and the Taq I/3'G gamma polymorphic site, while that of the Albanian family was associated with subhaplotype [- - - - +] but not with the Taq I/3'G gamma site. The particular features of these polymorphisms support the hypothesis of an African origin for the Hb O-Arab gene and a subsequent recombination event leading to the haplotype found in the Italian family.
Lacerra
G
G
Istituto Internazionale di Genetica e Biofisica CNR, Napoli, Italia.
Fioretti
G
G
Hani
A
A
Duka
D
D
De Angioletti
M
M
Pagano
L
L
Viola
A
A
Desicato
S
S
Ferranti
P
P
Pucci
P
P
D000293:Adolescent; D000349:Africa / Q000208:ethnology; D000415:Albania / Q000453:epidemiology; D001483:Base Sequence; D004247:DNA / Q000235:genetics*; D005914:Globins / Q000032:analysis; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length
D006455:Hemoglobins, Abnormal; D005914:Globins; D004247:DNA; C032031:hemoglobin Arab