Analysis of frequency and molecular genetics of Jk (a-b-) phenotype among blood donors from Jining area / 中华医学遗传学杂志

OBJECTIVE@#To screen for Jk(a-b-) phenotype among blood donors from Jining area and explore its molecular basis to enrich the rare blood group bank for the region.@*METHODS@#The population who donated blood gratuitously at Jining Blood Center from July 2019 to January 2021 were selected as the study subjects. The Jk(a-b-) phenotype was screened with the 2 mol/L urea lysis method, and the result was confirmed by using classical serological methods. Exons 3 to 10 of the SLC14A1 gene and its flanking regions were subjected to Sanger sequencing.@*RESULTS@#Among 95 500 donors, urea hemolysis test has identified three without hemolysis, which was verified by serological method as the Jk(a-b-) phenotype and demonstrated no anti-Jk3 antibody. The frequency of the Jk(a-b-) phenotype in Jining area is therefore 0.0031%. Gene sequencing and haplotype analysis showed that the genotypes of the three samples were JK*02N.01/JK*02N.01, JK*02N.01/JK-02-230A and JK*02N.20/JK-02-230A, respectively.@*CONCLUSION@#The splicing variant of c.342-1G>A in intron 4, missense variants of c.230G>A in exon 4, and c.647_ 648delAC in exon 6 probably underlay the Jk(a-b-) phenotype in the local population, which is different from other regions in China. The c.230G>A variant was unreported previously.

Asociación entre grupo sanguíneo Kidd y malformaciones congénitas / Association between Kidd blood group and congenital malformations

Background: Since the discovery of blood groups, an association between these genetic polymorphisms and pathological phenotypes has been searched, looking for factors involved in the pathogenesis of diseases or biological population mechanisms that maintain these polymorphisms. In previous reports, we have described some associations between erythrocytic genetic marker segregation and the presence of congenital malformations. Aim: To explore the association between Kidd blood group and congenital malformations. Patients and methods: One hundred twenty two malformed newborns and their mothers and 136 normal newborns, seen at the Clinical Hospital of the University of Chile, were studied. Results: Kidd blood group segregation distortions were found among male malformed newborns, that were not present in normal newborns. Among mothers of both groups of newborns, a paucity of heterozygous for this system was found. Conclusions: The association found between a blood group and congenital malformations, allows to state that malformed children have a different genetic background, when compared to normal children

Asociación entre heterocigocidad materna para cinco grupos sanguíneos y éxito reproductivo / Association between maternal heterozygosity for five blood groups and reproductive success

Background: In man, blood groups are polymorphic genetic systems. Maternal fetal incompatibility phenomena should lead to an elimination rather than a maintenance of these polymorphisms. Apossible mechanism that could explain the persistence of these polymosphisms in natural populations is a selective reproductive advantage of heterozygous individuals. Aim: To explore the relationship between maternal heterozygosity for five blood grups and some obstetrical variables related to gestational success. Material and methods: Using a case control design, to every mother giving birth to a malformed child a consecutive mother, whose offspring was normal, was assigned as control. All women were typified for ABO, Rh, kidd, MNSs and Duffy blood groups. Results: Two hundred two women were studiend. There was only one stillbirth, born from a heterozygous mother for all analyzed loci. Mothers that were heterozygous or homozygous for all loci had a higher frequency of malformed children. Women homozygous for all loci had a higher frequency of living offspring than the rest of the sample. Conclusions: Heterozygous mothers for these genetic systems have a reproductive disadvantage

Sistema Kidd en la población aymara / Kidd system in aymara population

Los grupos sanguíneos constituyen una buena forma de medir factores genéticos en una población habiéndose demostrado una gran variabilidad en los diferentes grupos étnicos a nivel mundial. El sistema Kidd, en primera instancia, fue un sistema sencillo de dos antígenos, Jka y Jkb. El descubrimiento del poco frecuente fenotipo Jk(a-b), también conocido como fenotipo Hawai, llevó a postular la existencia de un tercer gen, Jk. Los anticuerpos de este sistema son el Anti-Jka y el Anti-Jkb. En este trabajo se estudió el el sistema Kidd en la población aymara, grupo étnico que habita en el sector andino de la I Región de Chile. La muestra consistió en 200 individuos aymaras de ambos sexos. Los antígenos del sistema Kidd fueron determinados mediante el método de antiglobulina indirecta, con anti Jkb y anti Jkb comerciales. Las frecuencias génicas encontradas fueron: Jka(p)=0.182; Jkb(q)=0.660 y Jk(r)=0.158. Los resultados obtenidos en la población aymara, muestran una gran diferencia en las frecuencias génicas, al ser comparadas con las reportadas para la raza blanca, en la cual no está descrita la existencia del gen Jk