The Usefulness of Sequence Analysis of Amplified DNA for the Identification of δ Chain Variants

Abstract

A method of identifying delta chain variants using relatively small volumes of blood is described. The procedure consists of the amplification of two segments of genomic DNA with two sets of delta chain specific primers and sequencing of the three exons (exons 1, 2, and 3) which are part of the amplified DNA segments. Data for three delta chain variants present in seven adult heterozygotes are presented.

Epidemiology of the delta globin alleles in southern Italy shows complex molecular, genetic, and phenotypic features

“…This finding is very remarkable if we consider that the only comparable group of carriers reported until now consists of eight families from Eastern Europe, of which three were Jewish [Ranney et al, 1969;Vella et al, 1972;Boerma et al, 1974;de Jong and Went, 1974;Carter et al, 1975;Vella, 1977;Eliakim and Rachmilewitz, 1983]. In addition, this allele has been reported in sporadic observations: in a Dutch person [de Jong and Went, 1974], in a Greek from Turkey [Aksoy and Erdem, 1966;Boerma et al, 1974], in a single Black [Li et al, 1991], in a Canadian, and in a Canadian Indian [Boerma et al, 1974]. In Italy, it has already been found in a family from Catania [Li et al, 1991;Schilliro et al, 1991].…”

“…Hb A2-Mitsero has already been reported in 14 Greek Cypriot families [Trifillis et al, 1993;Paviou et al, 2001]. Hb A2-Etolia and Hb A2-Coburg were previously reported in single families of Greek [Drakoulakou et al, 1997] and Sicilian origin [Li et al, 1991], respectively.…”

“…In addition, this allele has been reported in sporadic observations: in a Dutch person [de Jong and Went, 1974], in a Greek from Turkey [Aksoy and Erdem, 1966;Boerma et al, 1974], in a single Black [Li et al, 1991], in a Canadian, and in a Canadian Indian [Boerma et al, 1974]. In Italy, it has already been found in a family from Catania [Li et al, 1991;Schilliro et al, 1991]. Moreover, extensive surveys failed to detect the allele in about 100,000 subjects from European countries [Vella, 1977].…”