DNA‐based typing of Kell, Kidd, MNS, Dombrock, Colton, and Yt blood group systems in the French Basques

Abstract

The Basques demonstrate peculiar characteristics regarding blood group systems. Although ABO, Rhesus, and Duffy have been extensively studied in this population, the distribution of other groups remains largely unknown. Therefore, we evaluated the frequency of less-explored- or still noninvestigated blood groups using DNA-based assays and interpreted these data in the view of population genetics. Polymorphisms of KEL (Kell), SLCA14A1 (Kidd), GYPA/GYPB (MNS), ART4 (Dombrock), AQP1 (Colton), and ACHE (Yt) blood group genes were determined from a sample of more than 100 autochthonous French Basques using allele-specific primer PCR (PCR-ASP) methods. Our results were compared with those previously obtained by the use of serology from both Basque and non-Basque European populations. MNS*1 and JK*1 allele frequencies were comparable with those reported from Basque samples. Conversely, the KEL*1 allele frequency differed significantly. To our knowledge, this is the first time that the other three systems are studied in the Basque population. DO*1 and CO*1 allele frequencies, being respectively 0.35 and 0.96, were significantly inferior to those published from various European populations. There were some discrepancies regarding these six blood systems when comparing molecular typing with serology. These findings may be explained by differences in either criteria for individual selection or technical assays. Nevertheless, these results constitute additional data to be included in the chapter of Basque biological anthropology.

Genotyping of Dombrock blood group system in blood donors from Saudi Arabia

“…Blood donors were screened for the DO alleles DO * 01 and DO * 02 ( c.793A>G, rs11276 ) using PCR-ASP and human growth hormone as an internal control, as previously described. 5 Polymerase chain reaction primers are shown in Table 1 . The final reaction volume was 25 μl, which contains 1x GoTaq ® Green Master Mix (Promega, Wisconsin, USA), 1.0 μM of primers, <250 ng DNA, and DNAse-RNAse free water.…”

“…Its conditions were divided into 4 phases, as previously described. 5 Its reactions were denatured at 94°C for 5 minutes, then 10 reaction cycles at 94°C for 30 seconds, and at 65°C for one minute, followed by 25 reaction cycles at 94°C for 30 seconds, at 60°C for 30 seconds, and at 72°C for 2 seconds. The final extension was carried out at 72°C for 10 minutes.…”

“…The distribution of DO genotypes varies between populations. 4 , 5 For instance, the homozygous DO * 02/02 (DO * B/B) genotype is predominant in East Asian populations at an approximate 80% frequency. 4 In Caucasians, the heterozygous DO * 01/02 (DO * A/B) genotype is more frequent (46.7%) than the DO * 02/02 genotype (39.4%).…”

“…This method was previously validated to detect DO * 01 and DO * 02 rapidly in blood donors. 5 The findings of this study will be used for comparisons with global populations and to establish a DO blood group database in Saudi Arabia.…”

Determining of JK*A and JK*B Allele Frequency Distribution among Muslim Blood Donors from Southern Thailand

“…The agreement between the observed and expected values of genotype frequencies was tested using the Hardy-Weinberg equilibrium and a chi-squared ( χ 2 ) test (16). A Pearson’s chi-squared test was conducted between the independent variables of Kidd allele frequencies in southern Thai-Muslims and the independent variables of previously reported populations (11, 17–25) using the allele frequencies in a 2 × 2 contingency table to determine whether the allele frequencies of southern Thai-Muslims significantly differed from those of other population. In addition, Pearson’s chi-squared and Fisher’s exact tests were used to test possible associations using a 2 × 2 contingency table to demonstrate any differences among independent variables in the frequencies of Kidd predicted phenotypes between the southern Thai-Muslim and Malaysian populations (26).…”