Genetic variability of blood groups in southern Brazil

Abstract

We evaluated genetic variability among the blood groups Kell (c.578C > T and c.1790T > C), Kidd (c.838A > G), Duffy (c.125A > G, c.265C > T and c.1-67T > C), Diego (c.2561C > T), MNS (c.143T > C) and Rh (c.676G > C) in Rio Grande do Sul in southern Brazil. Genetic profiling from 382 volunteer blood donors was performed through allelic discrimination assays using a hydrolysis probe (TaqMan®) with a real-time PCR system. The sample was divided into two groups: Euro-Brazilian and Afro-Brazilian. A comparison with studies from other regions of Brazil and the 1000 Genomes Database showed significant differences for almost all polymorphisms evaluated in our population. Population differentiation between the Euro-and Afro-Brazilian groups was low (F ST value 0.055). However, when each locus was evaluated individually, KEL*06 and FY*02N.01 allele frequencies were significantly higher in the Afro-Brazilian group than in the Euro-Brazilian group. Ethnic classification that uses phenotypic criteria to find blood units with rare antigens may be important when there is a need to detect blood units with an absence of Duffy antigens. There is also a greater probability of finding donors in the Afro-Brazilian group. Taken together, the data indicate strong European and African contributions to the gene pool, with intense admixture.

Blood groups in Native Americans: a look beyond ABO and Rh

“… RS: Blood donors from the state of Rio Grande do Sul ( Waskow et al ., 2020 ) SC: Blood donors from the state of Santa Catarina ( Costa et al ., 2016 ) PR: Blood donors from the Southwest region of the state of Parana ( Zacarias et al ., 2016 ) PR-BJD (Brazilian Japanese descendants): Blood donors from the state of Parana ( Flôres et al ., 2014 ) SP: Blood donors from the state of São Paulo ( Ribeiro et al ., 2009 ) BA: Mixed population from the state of Bahia ( Costa et al ., 2016 ) * Kaingang with other studies, p < 0.05 † Guarani with other studies, p < 0.05 …”

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Figure 1 - Nonmetric multidimensional scaling of DA genetic distances between 10 population samples, based on Diego, Kell and Duffy red cell polymorphisms (stress = 0.04; R2 = 0.99). Legend: GUARA_1990: Guarani present study, KAING_2000: Kaingang present study, GUARA_1960s: Guarani sampled in the 1960s ( Salzano 1964a ), KAING_1960s: Kaingang sampled in the 1960s ( Salzano et al ., 1980 ), RS: Blood donors from the state of Rio Grande do Su l ( Waskow et al ., 2020 ), SC: Blood donors from the state of Santa Catarina ( Costa et al ., 2016 ), PR: Blood donors from the Southwest region of the state of Parana ( Zacarias et al ., 2016 ), PR-BJD (Brazilian Japanese descendants): Blood donors from the state of Parana ( Flôres et al ., 2014 ), SP: Blood donors from the state of São Paulo ( Ribeiro et al ., 2009 ), BA: Mixed population from the state of Bahia ( Costa et al ., 2016 ).

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“…In addition, we reviewed previous studies of blood groups from other regions of Brazil, determined the allele frequency of the investigated polymorphisms and compared these data with those of the Kaingang and Guarani groups. Data on allele frequencies from blood donors were collected from (1) the South region of Brazil (by state): Rio Grande do Sul (RS, n = 407) ( Waskow et al . 2020 ), Santa Catarina (SC, n = 373) ( Costa et al, 2016 ) and Paraná (PR, n = 251; Brazilian Japanese descendants, n = 209) ( Flôres et al, 2014 ; Zacarias et al, 2016 ); (2) the Southeast region: São Paulo (SP, n = 948) ( Ribeiro et al, 2009 ); and (3) the Northeast region: Bahia (BA, n = 196) ( Costa et al, 2016 ).…”

“…2020 ), Santa Catarina (SC, n = 373) ( Costa et al, 2016 ) and Paraná (PR, n = 251; Brazilian Japanese descendants, n = 209) ( Flôres et al, 2014 ; Zacarias et al, 2016 ); (2) the Southeast region: São Paulo (SP, n = 948) ( Ribeiro et al, 2009 ); and (3) the Northeast region: Bahia (BA, n = 196) ( Costa et al, 2016 ). The following methodologies were employed for blood group genotyping in these studies: restriction fragment length polymorphism - polymerase chain reaction (RFLP-PCR) ( Flôres et al, 2014 ; Costa et al ., 2016 ; Zacarias et al, 2016 ), DNA array analysis performed with the human erythrocyte antigen (HEA) BeadChip ( Ribeiro et al, 2009 ) and real-time PCR ( Waskow et al, 2020 ).…”

Voltage-Gated Sodium Channel β₁ Gene: An Overview

“…p. Arg89Cys in SCN1B is associated with epileptic encephalopathy [50]. Interestingly, the expression of c.265C > T is higher in Afro ethnics than in Euro ethnics [62]. Therefore, ethnicity may play an essential role in SCN1B mutations and DS.…”