Frequencies of polymorphisms of the Rh, Kell, Kidd, Duffy and Diego systems of Santa Catarina, Southern Brazil

Abstract

BackgroundRed blood cell genes are highly polymorphic with the distribution of alleles varying between different populations and ethnic groups. The objective of this study was to investigate gene polymorphisms of blood groups in the state of Santa Catarina, Southern Brazil.MethodsThree hundred and seventy-three unrelated blood donors and 31 transfusion-dependent patients were evaluated to investigate polymorphisms of the Rh, Kell, Duffy, Kidd, and Diego blood group systems in a population from the state of Santa Catarina. The subjects, from seven regions that comprise the blood-banking network of the state, were assessed between August 2011 and March 2014. The genotypes of the Rh, Kell, Duffy, Kidd, and Diego systems were determined using the restriction fragment length polymorphism-polymerase chain reaction and allele-specific polymerase chain reaction techniques.ResultsThe genotype frequencies in this study were significantly different when populations from different regions of Santa Catarina were compared. Furthermore, there were also significant differences in the genetic frequencies compared to other Brazilian states. The genotype frequencies of the Kell and Kidd blood groups are similar to European populations from Naples, Italy and Zurich, Switzerland.ConclusionThis article reports for the first time the frequency of polymorphisms of blood group systems in blood donors from Santa Catarina, Southern Brazil.

Distribution of DI*A and DI*B Allele Frequencies and Comparisons among Central Thai and Other Populations

“…DI*A and DI*B allele frequencies between Central Thai and other populations were compared. Allele frequencies were similar to Southeast Asian, Brazilian, southern Brazilian and American native populations [ 15 , 20 , 25 ]. On the contrary, they significantly differed (P<0.05) from Italian, Alaska native/Aleut, Hawaiian/Pacific Islander, Han Chinese, Chinese, Japanese, Korean and Filipino populations [ 16 – 18 , 21 , 23 – 25 ], as shown in Table 1 .…”

“…The Chi-square (χ 2 ) test was used to evaluate whether the observed genotype frequencies agreed with the expected ones under the Hardy-Weinberg equilibrium. The χ 2 test of homogeneity was used to determine the difference between Central Thai and those previously reported in other populations including 9 Asians: Han Chinese (Shanghai) [ 24 ], Chinese (Shen-Zhen) [ 18 ], Chinese (Chengdu) [ 21 ], Brazilian Japanese descendants [ 16 ], Japanese [ 25 ], Korean (Seoul) [ 17 ], Korean [ 25 ], Southeast Asian [ 25 ] and Filipino [ 25 ] and 6 non-Asians: Southern Brazilians [ 15 ], Brazilians [ 20 ], Italians (Naples) [ 23 ], American Native [ 25 ], Alaska Native/Aleut [ 25 ] and Hawaiian/Pacific Islander [ 25 ], respectively. A P value equal or less than 0.05 was considered statistically significant.…”

“…A P value equal or less than 0.05 was considered statistically significant. In addition, DI*A and DI*B allele frequencies were used to compute a matrix of Cavalli-Sforza chord distances for 9 Asian and 6 non-Asian populations [ 15 – 18 , 20 , 21 , 23 – 25 ] by Phylip 3.695 [ 28 ]. A metric multidimentional scaling (MDS) analysis was performed using SPSS 16.0 software (SPSS Inc., Chicago, IL, USA) and was performed in different populations using the geometric genetic distances as parameters.…”

“…However, some limitations of serological techniques occur in patients who have previously received blood transfusions or have RBCs that give a positive direct antiglobulin test (DAT) result. Various polymerase chain reaction (PCR)-based techniques have been implemented for Diego blood group genotyping such as PCR-restriction fragment length polymorphism (PCR-RFLP), PCR with sequence-specific primer (PCR-SSP) as single or multiplex assays, real time quantitative PCR, high-resolution melting analysis and DNA microarray hybridization [ 15 – 25 ]. These PCR techniques used to determine DI*A and DI*B alleles are beneficial not only in transfusion medicine but also in human genetic research because the DI*A allele has been recognized as a genetic marker in biological anthropology among populations [ 26 , 27 ].…”

The screening of rare blood donors in a highly admixed population: A new approach for Holley and Diego genotyping and impact of genomic and self‐reported ancestry

“… Note : 1000 Genomes Project populations: CHB, Han Chinese in Beijing, China; JPT, Japanese in Tokyo, Japan; CHS, Southern Han Chinese; CDX, Chinese Dai in Xishuangbanna, China; KHV, Kinh in Ho Chi Minh City, Vietnam; CEU, Utah Residents (CEPH) with Northern and Western European Ancestry; TSI, Toscani in Italia; FIN, Finnish in Finland; GBR, British in England and Scotland; IBS, Iberian Population in Spain; YRI, Yoruba in Ibadan, Nigeria; LWK, Luhya in Webuye, Kenya; GWD, Gambian in Western Divisions in the Gambia; MSL, Mende in Sierra Leone; ESN, Esan in Nigeria; ASW, Americans of African Ancestry in SW USA; ACB, African Caribbeans in Barbados; MXL, Mexican Ancestry from Los Angeles USA; PUR, Puerto Ricans from Puerto Rico; CLM, Colombians from Medellin, Colombia; PEL, Peruvians from Lima, Peru; GIH, Gujarati Indian from Houston, Texas; PJL, Punjabi from Lahore, Pakistan; BEB, Bengali from Bangladesh; STU, Sri Lankan Tamil from the UK; ITU, Indian Telugu from the UK (Populations described in 100Genomes Project, except from Brazil). Brazilian populations: Piassi et al, Baleotti et al, Latini et al, Bianchi et al, Costa et al, Zacarias et al, Novaretti et al, Baleotti, Cozac …”