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DNA haplotype heterogeneity of β‐thalassaemia in Greece: feasibility of prenatal diagnosis
Author(s) -
Athanassiadou A.,
Zarkadis I.,
Papahadjopoulou A.,
Maniatis G. M.
Publication year - 1987
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1987.00379.x
Subject(s) - haplotype , genetics , prenatal diagnosis , biology , genetic heterogeneity , thalassemia , phenotype , mutation , hemoglobinopathy , genotype , gene , hemolytic anemia , immunology , pregnancy , fetus
Summary We have carried out DNA haplotype analysis of 69 β‐thalassaemia patients in Greece and 42 of the parents using seven standard polymorphic sites. Our data show a high degree of heterogeneity of the chromosomal background in which β‐thalassaemia occurs in Greece, suggesting a high degree of heterogeneity in the β‐thalassaemia mutations involved. Haplotype I is found here to represent 45% of total β‐thalassaemia mutations detected, a proportion well below the 67% reported in earlier studies with Greek‐American patients. Nine different haplotypes are detected and the ones carrying β + mutations are the majority, including those which are linked to β + mutations associated with a thalassaemia intermedia phenotype, and which constitute 11% of all haplotypes. One of these haplotypes (—‐ + + +) has never before been reported to occur in non‐Africans, whether in β thal or β A chromosomes, and it is found here to be of African origin rather than the product of recombination. In 21 families haplotype analysis showed that prenatal diagnosis for a second child was feasible in 81% of the cases. Use of the AvaII‐Ψβ polymorphic site as well as the seven standard ones brought this proportion up to 90%.