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We investigated the association of the lymphotoxin ( LT)-α gene polymorphism +249A/G with type 1 diabetes. The distribution of genotypes of the LT- α +249A/G single nucleotide polymorphism (SNP) was assessed in 115 diabetic patients and 123 normoglycemic control subjects, using PCR-restriction fragment length polymorphism analysis. Among unselected patients, the SNP was significantly associated with increased risk of diabetes (χ = 8.44, p = 0.014) and was found to be more pronounced among female (χ = 8.37, p = 0.02) than male (χ = 6.11, p = 0.047) patients. A significant association was detected between LT- α +249A/G and increased risk of diabetes, in particular for young-onset patients (χ = 6.92, p = 0.031). Moreover, we reported significant differences in levels of HbA1c, triglycerides, alanine transaminase, and anti-glutamic acid decarboxylase-65 among alleles. Additional studies with extended patient age groups and different ethnicities are needed to confirm our findings. [ABSTRACT FROM AUTHOR]

ß-Globin haplotypes are important to establish the ethnic origin and predict the clinical development of sickle cell disease patients (SCD). To determine the chromosomal background of ßs Tunisian sickle cell patients, in this first study in Tunisia, we have explored four polymorphic regions of ß-globin cluster on chromosome 11. It is the 5' region of ß-LCR-HS2 site, the intervening sequence II (IVSII) region of two fetal (Gγ and Aγ) genes and the 5' region of ß-globin gene. The results reveal a high molecular diversity of a microsatellite configuration describing the sequences haplotypes. The linkage disequilibrium analysis showed various haplotype combinations giving 22 "extended haplotypes". These results confirm the utility of the ß-globin haplotypes for population studies and contribute to knowledge of the Tunisian gene pool, as well as establishing the role of genetic markers in physiopathology of SCD. [ABSTRACT FROM AUTHOR]

We describe a new δ-globin variant, Hb A2-Pasteur-Tunis [δ59(E3)Ly(s)→Asn, AAG→AAC]. This hemoglobin (Hb) displayed an electrophoretic mobility faster than normal Hb A2 and was expressed at 2.2 %. The molecular defect was characterized by DNA sequencing and confirmed by a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP)-designed protocol. Hb A2-Pasteur-Tunis was found in a carrier of a codon 39 ((C)→T) β0-thalassemia (thal), presenting with a normal Hb A2 level. Phenotype and genotype investigations revealed that the total Hb A2 level of the patient was that expected for a minor β-thal (4.8%). [ABSTRACT FROM AUTHOR]