β-globin cluster haplotypes in normal individuals and β039-thalassemia carriers from Sardinia, Italy
| Autor: | S. Ristaldi, Laurent Varesi, Alessandra Falchi, C. M. Calò, L. Vacca, V. Latini, Ignazio S. Piras, Giuseppe Vona |
|---|---|
| Rok vydání: | 2005 |
| Předmět: |
Adult
Male Thalassemia Population Biology Disease cluster Polymerase Chain Reaction Family studies Gene Frequency Prevalence Genetics medicine Humans Genetic Predisposition to Disease Globin education Ecology Evolution Behavior and Systematics education.field_of_study Polymorphism Genetic beta-Thalassemia Haplotype DNA medicine.disease Globins genomic DNA Haplotypes Italy Codon Nonsense Anthropology Mutation (genetic algorithm) Female Anatomy |
| Zdroj: | American Journal of Human Biology. 17:765-772 |
| ISSN: | 1520-6300 1042-0533 |
| DOI: | 10.1002/ajhb.20442 |
| Popis: | 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 (βA/βA) and family studies on β-thalassemia homozygotes individuals, the haplotype frequencies in both normal individuals (βA/βA) and β039-thalassemia carriers (βA/β0) were studied. In our work chromosomes carrying β039 mutation are characterized by a prevalence of haplotype II (− + + − + + +) (52%) relative to haplotype I (+− − − − + +) (29%), in contrast, among chromosomes with βA 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text