RESUMO
BACKGROUND: Vel is a high frequency blood group antigen and its alloantibody is involved in haemolytic transfusion reactions. After elucidation of the molecular basis of the Vel-negative phenotype defined by a 17-base pair deletion in SMIM1, genotyping has been the technique of choice to identify the Vel-negative phenotype, and molecular investigations have contributed to explain Vel expression variability. The present study was aimed at screening for Vel negative blood donors and characterising the genetic changes found in Brazilian donors with altered Vel expression. MATERIALS AND METHODS: Molecular screening for the SMIM1*64_80del allele was performed in 1,595 blood donor samples using a SNaPshot protocol previously standardised in our laboratory. Four hundred donor samples were also submitted to serological screening using a polyclonal anti-Vel from our inventory. Samples with variability in antigen strength were selected for SMIM1 sequencing. RESULTS: No homozygous SMIM1*64_80del allele was found and the SMIM1*64_80del allele frequency was 1.01%. Different patterns of reactivity were observed in serological testing varying from negative to 3+. Through sequencing analysis we highlighted two polymorphisms: rs1175550 and rs6673829. The minor G allele of rs1175550 was found in 16/20 samples reacting 3+, while the major A allele was found in 21/23 samples reacting 2+. Regarding rs6673829, the minor A allele was present in 14/23 and 3/20 samples reacting 2+ and 3+ respectively. DISCUSSION: We included molecular VEL screening in a previously standardised SNaPshot protocol, which besides enabling detection of Vel-negative donors, also searches for eight other rare blood types. Additionally, the present study demonstrated that although the SMIM1*64_80del allele is responsible for some variation of Vel phenotype in this donor population, Vel expression is also controlled by molecular changes in SMIM1 intron 2.
Assuntos
Alelos , Doadores de Sangue , Antígenos de Grupos Sanguíneos/biossíntese , Regulação da Expressão Gênica , Proteínas de Membrana/genética , Polimorfismo de Nucleotídeo Único , Antígenos de Grupos Sanguíneos/genética , Brasil , Feminino , Frequência do Gene , Humanos , Masculino , Proteínas de Membrana/metabolismoRESUMO
Expression of blood group antigens in normal, displastic and tumoral uterine cervix from 35 hysterectomised women with carcinoma of the cervix was investigated; the results were correlated with patients' ABH phenotype and secretor status. We used an indirect immunoperoxidase technique and a panel of monoclonal antibodies and lectins directed against different antigenic specificities. Anomalous expression of blood group antigens in premalignant lesions from cervix was found. Partial loos of expression of blood group antigens and some lectins in different grades of cervical intraepithelial neoplasia, and a total loss of expression in CIN III and in infiltrating carcinoma of the cervix from secretor patients was revealed. The findings herein described confirm the importance of these antigens as tumour markers and they might be useful for the study of cervical carcinogenesis.
Assuntos
Biomarcadores Tumorais/análise , Antígenos de Grupos Sanguíneos/biossíntese , Neoplasias do Colo do Útero/metabolismo , Neoplasias do Colo do Útero/patologia , Feminino , Humanos , Lesões Pré-Cancerosas/metabolismo , Lesões Pré-Cancerosas/patologiaAssuntos
Humanos , Antígenos de Grupos Sanguíneos/biossíntese , Antígenos de Grupos Sanguíneos/fisiologia , Antígenos de Grupos Sanguíneos/química , Dieta/métodos , Dieta/tendências , Dieta , Ciências da Nutrição/fisiologia , Saúde , Plasma/citologia , Plasma/fisiologia , Plasma/química , Sistema ABO de Grupos Sanguíneos/biossíntese , Sistema ABO de Grupos Sanguíneos/fisiologia , Sistema ABO de Grupos Sanguíneos/química , Sistema do Grupo Sanguíneo Rh-Hr/fisiologiaRESUMO
Los estudios de isonimia se basan en el analisis de la distribucion y frecuencia de apellidos identicos de una comunidad y merecen ser aqui comentados porque demnuestran la interrelacion entre la genetica y la antropologia biologica y cultural. Los genetistas estan interesados en varios aspectos de los apellidos como marcadores biologicos: 1) la transmision del apellido simula la herencia de un gen ligado al cromosoma Y en una sociedad patrilineal; 2) la desaparicion de los apellidos esta estrechamente relacionada con el problema genetico de la extension de un gen mutante (Yasuda 1993); 3) la relacion entre la identidad de los apellidos de marido y mujer y su posible endo-crzamiento genetico. Finalmente estos esztudios permiten identificar la etnicidad y en general, suplementar los datos genericos con los antropologicos.