title: Hb Lepore Baltimore (delta 50Ser beta 86Ala) identified by DNA analysis in a Brazilian family.
abstract: Genomic DNA from two Brazilian hemoglobin (Hb) Lepore heterozygotes of Italian ancestry have been studied in order to identify the Hb Lepore type and to sequence the breakpoint region. The two genes were sequenced after PCR amplification and had the delta globin sequence up to exon 2 codon 68 while the first specific base for the beta globin gene was at codon 86 of the second exon; between the two ends, they had 51 base pairs in common with the delta and beta globin genes. These data indicate that the mutation was of the Hb Lepore Baltimore type. The Lepore chromosome haplotype was different from that previously described in members of a Spanish family with Hb Lepore Baltimore. These data suggest that independent mutations have given rise to Hb Lepore Baltimore in different regions of the world.
authors.affiliation: Department of Clinical Medicine, School of Medical Sciences, State University of Campinas, Brazil.
authors.forename: S R
authors.initials: SR
authors.lastname: Miranda
authors.forename: M S
authors.initials: MS
authors.lastname: Figueiredo
authors.forename: J
authors.initials: J
authors.lastname: Kerbauy
authors.forename: H Z
authors.initials: HZ
authors.lastname: Grotto
authors.forename: S T
authors.initials: ST
authors.lastname: Saad
authors.forename: F F
authors.initials: FF
authors.lastname: Costa
mesh_terms: D000740:Anemia / Q000097:blood / Q000208:ethnology / Q000235:genetics; D016375:Antisense Elements (Genetics) / Q000097:blood / Q000235:genetics; D001938:Brazil / Q000453:epidemiology; D002648:Child; D003062:Codon / Q000097:blood / Q000235:genetics; D004247:DNA / Q000097:blood* / Q000235:genetics; D004913:Erythrocytes, Abnormal; D005260:Female; D006239:Haplotypes; D006455:Hemoglobins, Abnormal / Q000032:analysis* / Q000235:genetics; D006801:Humans; D007558:Italy / Q000208:ethnology; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction
chemical_list: D016375:Antisense Elements (Genetics); D003062:Codon; D006455:Hemoglobins, Abnormal; C037468:hemoglobin Lepore Baltimore; D004247:DNA