title: Myotonic dystrophy: HLA antigens and mitogen stimulated lymphocyte responses of a black American family.
abstract: A Black American family of four generations with 29 members was studied. Six family members spanning two generations were affected with myotonic dystrophy. HLA A, B, C and DR antigen specificities were determined for each family member using local typing trays. Twelve HLA haplotypes were identified in the family. No significant association was found between the disease and any HLA antigenic type or haplotype. This finding suggests that the involvement of the major histocompatibility complex in the etiology of myotonic dystrophy is unlikely. The cellular responses to twenty-eight family members and 20 unrelated Black Americans to phytohemagglutinin (PHA), Concanavalin A (Con A) and pokeweed mitogen (PWM), each in three concentrations, were tested with mononuclear cells prepared from peripheral blood. There was a significant difference in responses of the affected family members as compared to the unaffected family members and the unrelated Black Americans. The PHA and PWM responses of the unaffected family members are not significantly different from those of the unrelated Black American controls; however, the Con A responses of the unaffected family members are significantly higher than those of the control group at the lowest Con A dosage. The possible systemic defects of cytoskeletal structures of the affected family members are discussed.
mesh_terms: D044383:Black People; D005260:Female; D006680:HLA Antigens / Q000235:genetics; D006801:Humans; D008213:Lymphocyte Activation; D008297:Male; D008934:Mitogens / Q000494:pharmacology; D009223:Myotonic Dystrophy / Q000235:genetics / Q000276:immunology*; D010375:Pedigree; D001741:Black or African American
chemical_list: D006680:HLA Antigens; D008934:Mitogens