RESUMO
Owing to the vast amount of alleles, high-resolution human leukocyte antigen (HLA) typing is expensive and time-consuming. Scientists have attempted to develop computational approaches to define HLA alleles with high confidence. We tested the reliability of HLA*IMP and SNP2HLA for imputing HLA-DRB1 alleles in a Finnish material (n=161). The per-individual success rates varied between 16.68% and 25.4% using both softwares. One of the most prominent example was HLA-DRB1*01:01 allele showing approximately a 30% success rate while being the most common wrongly imputed allele. In Finland, isolation and migration history have shaped the gene pool narrower showing HLA haplotype frequencies typical to the Finnish population when compared to Europeans. The imputation success for HLA-DRB1 alleles was very low pointing to the importance of population-specific reference material.
Assuntos
Alelos , Cadeias HLA-DRB1/genética , Software , População Branca/genética , Finlândia , Frequência do Gene , Genética Populacional , Cadeias HLA-DRB1/classificação , Cadeias HLA-DRB1/imunologia , Haplótipos , HumanosRESUMO
The aim of this family-based study was to investigate the potential association/genetic linkage of the (TAAAA)n polymorphism of sex hormone-binding globulin gene proximal promoter with testicular maldescent (TMD). Genomic DNA was extracted from the peripheral blood of 487 subjects (174 index families): (i) 180 children with all phenotypes of TMD, (ii) 307 parents (156 mothers and 151 fathers). Conventional polymerase chain reaction amplification products were electrophoresed on 10% nondenaturating polyacrylamide gel and visualised by silver staining. After excluding ambiguous parental-child trios and most cases of index families with missing parental genotypes, 429 individuals were left for analysis: 138 completely typed nuclear families (five included a second affected child) and five child-parent couples (one parent missing). Eight fathers presented history of TMD, that is, a total of 156 cases with TMD were analysed. Alleles were analysed with the affected family-based control method and logistic regression-based extension of the transmission disequilibrium test for multiallelic loci. (ΤΑΑΑΑ)n polymorphism analysis revealed six alleles based on repeat numbers (n=5-10). No association/genetic linkage between the (TAAAA)n polymorphism and TMD was detected. Other factors should be investigated to potentially explain the genetic predisposition that seems to exist in at least a subgroup of these patients.
Assuntos
Criptorquidismo/genética , Polimorfismo Genético , Globulina de Ligação a Hormônio Sexual/genética , Adolescente , Criança , Pré-Escolar , Criptorquidismo/patologia , DNA/sangue , Feminino , Ligação Genética , Predisposição Genética para Doença , Humanos , Lactente , Masculino , Pais , Fenótipo , Reação em Cadeia da Polimerase , Regiões Promotoras GenéticasRESUMO
INTRODUCTION: Gynecomastia is a common clinical sign in several diseases. In this report we present a case of gynecomastia with underlying testicular tumor which remained misdiagnosed for a prolonged period of time. CASE REPORT: A 16-year-old adolescent noticed unilateral painless swelling of the left breast. He was referred to the Department of General Surgery and examined by a breast surgeon. A diagnosis of mastitis was made and a treatment with an oral antibiotic drug began. After failure of the initial antibiotic treatment, the patient was referred to the Department of Endocrinology and left testicular cancer was diagnosed. Unilateral high inguinal orchidectomy and subsequent chemotherapeutic treatment were performed. CONCLUSION: Primary care physicians should be aware of the possibility of a concomitant presence of gynecomastia and testicular cancer. We suggest a physical examination as well as a laboratory investigation, and testicular ultrasonography of the testes in all patients with gynecomastia.