Molecular characterization of Italian chromosomes carrying the Lepore Boston gene.
Hemoglobin Lepore Boston is characterized by abnormal non-alpha-chains that are the product of a fusion delta beta gene originated from an unequal crossing over between misaligned delta and beta genes. The investigation of the restriction fragment length polymorphisms (RFLP) of the beta-globin gene cluster in 18 Italian Lepore Boston chromosomes indicates that the hybrid gene is linked to two RFLP patterns. The majority of chromosomes show a pattern which corresponds to haplotype V and a minority to haplotype I according to Orkin's classification. A single Hb Lepore Boston homozygote was homozygous for haplotype V. The two haplotypes differ only for a single site 3' to the beta cluster. Our data allow the speculation that in Italy the Lepore Boston gene might be the result of multiple recombination events.
Camaschella
C
C
Dipartimento di Scienze Biomediche ed Oncologia Umana, Università di Torino, Italia.
Serra
A
A
Bertero
M T
MT
Gottardi
E
E
Alfarano
A
A
Revello
D
D
Travi
M
M
Seia
M
M
Cremonesi
L
L
Ferrari
M
M
D002872:Chromosome Deletion; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D015342:DNA Probes; D005914:Globins / Q000235:genetics; D006239:Haplotypes; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007558:Italy; D012150:Polymorphism, Restriction Fragment Length; D015183:Restriction Mapping; D013789:Thalassemia / Q000235:genetics
D015342:DNA Probes; D006455:Hemoglobins, Abnormal; C031751:hemoglobin Lepore Boston; D005914:Globins