Hattori, Yuichi and Kutlar, Ferdane and Chen, S. S. and Huisman, Titus H. J. and Demuro, Pierina and Formato, Marilena and Manca, Laura and Masala, Bruno Lucio (1986) DNA polymorphisms in north Sardinian newborns and their linkage with abnormal γ globin gene arrangements and with β0-thalassemia. Biochemical Genetics, Vol. 24 (9-10), p. 669-681. eISSN 1573-4927. Article.
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Fetal hemoglobin analysis and globin gene mapping have identified one type of β0-thalassemia and four different γ globin gene arrangements among newborn babies from the northern part of Sardinia. The β0-thalassemia with a nonsense mutation at codon 39 was found on two chromosomes, each with a distinct pattern of polymorphic restriction sites; one had the AγT (Aγ 75 Ile→Thr) mutation, while the second did not. Four closely related haplotypes were identified for chromosomes with the AγT mutation. The γ-thalassemia heterozygosity with the —GAγ— hybrid gene fell into two categories. One apparently originated through crossing-over between mismatched chromosomes characterized by the most common haplotype, while the other had polymorphisms resembling those of a less frequently occurring chromosome. Chromosomes with the —Gγ—AGγ—Aγ— triplication had polymorphic sites to be expected for this condition, being complimentary to the —GAγ— thalassemias. Of the two additional γ globin gene variations the —Gγ—Gγ— arrangement was associated with the chromosome with the most commonly occurring haplotype, while the chromosome with the —Aγ—Aγ— arrangement had a haplotype characteristic for that with the AγT mutation, which identified an —Aγ—AγT— arrangement. The incidental discovery of a silent β-chain mutant, Hb Hamilton, with the Val→Ile substitution at position β11, in five newborns was also reported.
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