Related GMR Articles
Ala100Thr has been suggested to be a Caucasian genetic marker on the FY*B allele. As the Brazilian population has arisen from miscegenation among Portuguese, Africans, and Indians, this mutation could possibly be found in Euro- and Afro-Brazilians, or in Brazilian Indians. Fifty-three related individuals and a random sample of 100 subjects from the Brazilian population were investigated ... more
The ethnic composition of the Brazilian population favors high frequencies of the -α3.7 deletion, responsible for α-thalassemia, because this mutation is very common in African populations. In spite of its importance, this hemoglobinopathy has been poorly investigated in Brazil, especially at the molecular level. We investigated the prevalence of the -α3.7 mutation in 220 individuals attended ... more
The main purpose of this research was to analyze the relation of the genetic polymorphisms frequently expressed by antigen-presenting cells, erythrocytes and malaria susceptibility/resistance with the human malaria infection cases. The sample used consisted of 23 Plasmodium vivax (Pv)- and P. falciparum (Pf)-infected patients, and 21 healthy individuals as a control group, ... more
Charcot-Marie-Tooth type 1A disease (CMT1A) is most frequently caused by a tandem DNA duplication of a 1.4-Mb genomic fragment in the 17p11.2-12 chromosomal region. The disease is probably the product of a dosage effect of the peripheral myelin protein 22 gene located within the duplicated segment. We sought to study the largest reported Brazilian family with suspected diagnosis of CMT1A using ... more
The ABO blood group is the most important blood group system in transfusion medicine and organ transplantation. To date, more than 160 ABO alleles have been identified by molecular investigation. Almost all ABO genotyping studies have been performed in blood donors and families and for investigation of ABO subgroups detected serologically. The aim of the ... more
Chronic myeloid leukemia is a hematopoietic stem cell disorder that causes uncontrolled proliferation of white blood cells. Although the clinical and biological aspects are well documented, little is known about individual susceptibility to this disease. We conducted a case-control study analyzing the prevalence of the polymorphisms MTHFR C677T, MTHFR A1298C, del{ ... more
Several studies have described an association between cytotoxic T-lymphocyte antigen-4 (CTLA-4) gene polymorphism and type 1 diabetes mellitus (T1D) in some ethnic populations, and a lack of association in other populations. Differences in the contribution of the genetic background of T1D onset are age dependent. We conducted a case-control study of a T1D ... more
Genetic polymorphisms involved in carcinogen metabolism contribute to leukemogenesis risk. Epidemiological studies have revealed genetic alterations in chronic lymphocytic leukemia (CLL), including chromosome alterations, noncoding RNA alterations, and genetic polymorphisms. The bioactivation and detoxification of chemical agents is mediated by xenobiotic ... more
Type 2 diabetes mellitus (T2DM) is a chronic, complex, multifactorial and polygenic disease, constituting one of the greatest public health challenges worldwide. The genetic background has been shown to strongly influence the disease’s susceptibility. We performed genetic screening of risk-variants for T2DM and complications in the Brazilian population. This ... more