Premium
β‐globin cluster haplotypes in normal individuals and β 0 39‐thalassemia carriers from Sardinia, Italy
Author(s) -
Piras I.,
Vona G.,
Falchi A.,
Latini V.,
Ristaldi S.,
Vacca L.,
Varesi L.,
Calò* C.M.
Publication year - 2005
Publication title -
american journal of human biology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.559
H-Index - 81
eISSN - 1520-6300
pISSN - 1042-0533
DOI - 10.1002/ajhb.20442
Subject(s) - haplotype , genetics , population , beta thalassemia , thalassemia , biology , beta (programming language) , corsican , globin , genotype , gene , medicine , environmental health , philosophy , computer science , programming language , linguistics
Seven polymorphic sites in the β‐globin cluster in association with specific thalassemia mutations were analyzed in a sample from Sardinia, Italy. In order to verify previous works carried out on normal samples (β A /β A ) and family studies on β‐thalassemia homozygotes individuals, the haplotype frequencies in both normal individuals (β A /β A ) and β 0 39‐thalassemia carriers (β A /β 0 ) were studied. In our work chromosomes carrying β 0 39 mutation are characterized by a prevalence of haplotype II (− + + − + + +) (52%) relative to haplotype I (+− − − − + +) (29%), in contrast, among chromosomes with β A the frequency of haplotype I is much greater than that of haplotype II. These data confirm what was found by other authors. Nevertheless, our results disagree with those of previous studies of Sardinians, both in frequencies values and in the numbers of haplotypes identified. Population analysis performed with samples carrying the β‐thalassemic mutation highlighted the peculiarity of Sardinians with respect to other Mediterranean populations. The Corsican population is most similar to the Sardinian population, confirming previous analyses performed with both classical markers and mitochondrial and genomic DNA. Am. J. Hum. Biol. 17:765–772, 2005. © 2005 Wiley‐Liss, Inc.