RESUMEN
The novel HLA-A*24:537 allele differs from HLA-A*24:02:01:01 by a nucleotide change at gDNA 294 C â T.
Asunto(s)
Secuenciación de Nucleótidos de Alto Rendimiento , Nucleótidos , Alelos , Antígenos HLA-A/genética , Humanos , Análisis de Secuencia de ADNRESUMEN
Summary: Background and objective. Many studies have shown associations between HLAB*15:02, HLA-A*31:01 and carbamazepine (CBZ)-induced delayed cutaneous hypersensitivity reactions. The aim of this study is to evaluate a possible association between delayed cutaneous reactions to antiepileptic drugs (AEDs) and certain HLA-A and HLA-B alleles in the Turkish population. Methods. The study consisted of 3 groups: Group I (reactive group) included the patients who had documented delayed cutaneous reactions to any antiepileptic drug. Group II (non-reactive group) included the patients who have been on antiepileptic treatment at least for three months without any adverse reactions. Group III consisted of healthy subjects. The HLA-A and B alleles were analyzed in all groups. Results. Forty patients (29 female) had experienced different hypersensitivity reactions due to AEDs: maculopapular exanthema (26 patients), Stevens-Johnson syndrome (6 patients), drug rash with eosinophilia and systemic symptoms (7 patients), toxic epidermal necrolysis (1 patient). Lamotrigine (11) and CBZ (10) were the most common culprit drugs involved in the reactions. The HLA-B*15:02 was not present in any of the study groups. However, HLA-B*35:02 was found in 4 patients from the reactive group, while it was not observed in non-reactive patients and was detected in only one healthy subject (p = 0.021). Conclusion. Although our preliminary results did not indicate a strong allele association with AED hypersensitivity, HLA-B*35:02 appears to be a candidate allele for MPE / DRESS / DIHSS induced by AED's in Turkish population. Further studies with a larger sample size may result in more comprehensive data about the genetic tendency for AED hypersensitivity in the Turkish population.
Asunto(s)
Hipersensibilidad a las Drogas/genética , Genotipo , Antígenos HLA-A/genética , Antígenos HLA-B/genética , Hipersensibilidad Tardía/genética , Adolescente , Adulto , Anciano , Alelos , Alérgenos/inmunología , Anticonvulsivantes/inmunología , Anticonvulsivantes/uso terapéutico , Carbamazepina/inmunología , Carbamazepina/uso terapéutico , Femenino , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Humanos , Masculino , Persona de Mediana Edad , Polimorfismo Genético , Turquía , Adulto JovenRESUMEN
A novel human leucocyte antigen (HLA)-A allele, HLA-A*01:195, was identified by sequence-based typing (SBT) in a UAE national subject. The novel allele is identical to its closest known allele, HLA-A*01:01:01:01, in exon 2, 3 and 4, except for a single nucleotide mutation of A to G at position 442 in exon 3 (codon 124 in the α2 domain of the α chain of the mature protein). This A to G mutation results in an amino acid change of isoleucine #124 to valine.
Asunto(s)
Exones/genética , Antígenos HLA-A/genética , Mutación/genética , Alelos , Secuencia de Bases , Etnicidad , Prueba de Histocompatibilidad , Humanos , Datos de Secuencia Molecular , Polimorfismo Genético , Análisis de Secuencia de ADN , Emiratos Árabes UnidosRESUMEN
Objective:To study the frequency and distribution of HLA-A alleles and HLA-A*02 subtypes in the lung cancer patients in Yunnan Xuanwei area.This study aims at providing the significant genetic information for lung cancer research and treatment.Methods:Genomic DNA samples were collected from lung cancer patients and healthy donors residing in Yunnan Xuanwei area.HLA-A alleles and HlA-A*02 subtypes were typed by PCR-SSP assay.Case-control study was used to study the difference of frequency distribution between patients and normal controls.The polymorphisms of HLA-A*02 were also observed in cancer patients.Results:The positive rates of HLA-A*02 was significantly higher in cancer patients than in healthy controls (P=0.004,OR=2.432,95% CI=1.314-4.500),which were 68.75% and 47.50%,respectively.The gene frequency of HLA-A*02 was significantly higher in cancer patients than in healthy controls(P