"Mysterious veil" between the blood group system and pathogens / 中南大学学报(医学版)

As a stable genetic marker of human, blood group is expressed in a polymorphic system in the population. Blood group and pathogens mainly produce effects through the interaction between antigens and antibodies. On the one hand, they can promote pathogen colonization, invasion or evasion of host clearance mechanism, and on the other hand, they can make some hosts less susceptible to corresponding pathogens. By exploring the molecular mechanism between the blood group system and pathogenic microorganisms, it can provide a scientific basis for the treatment of human related diseases and the development of vaccines.

Genetic Polymorphism of Antigens in Twelve Rare Blood Group Systems of Li Nationality in Hainan Province / 中国实验血液学杂志

OBJECTIVE@#To explore the distribution characteristics of main antigen gene frequencies of Duffy,Diego,Kidd,Dombrock,MNS,Lutheran,Kell,Colton,Scianna,Yt,Knops and Indian in red blood cell blood group system of Li nationality in Hainan Province.@*METHODS@#Antigens in twelve rare blood group systems of 214 Li people in Hainan Province were genotyped and analyzed by polymerase chain reaction-sequence specific primers (PCR-SSP).@*RESULTS@#The gene frequency of antigens in twelve rare blood group systems of 214 Li people in Hainan Province including: the gene frequency of Duffy blood group system: fy@*CONCLUSION@#The genetic distribution and genetic status in twelve rare blood group systems of Li nationality in Hainan Province are relatively stable. The gene distribution of Duffy, Diego, Kidd, Drombrock, MNS and Lutheran blood group systems are polymorphic and show unique distribution characteristics compared with other regions and different nationalities. The gene frequency distribution of Kell、Colton、Scianna、Yt、Knops、Indian blood group systems are monomorphic.

Molecular screening for Vel- blood type and analysis of SMIM1 gene variants / 中华医学遗传学杂志

OBJECTIVE@#To screen for Vel- rare blood type donors and determine the frequency of SMIM1 c.64_80del allele in Yili Prefecture of Xinjiang, China.@*METHODS@#DNA pooling and PCR-sequence-specific primers (PCR-SSP) was conducted to screen individuals carrying the SMIM1 c.64_80del variant, and Sanger sequencing of SMIM1 exon 3 was carried out to verify the genotype of those with the variation. SMIM1 intron 2 was also sequenced to identify single nucleotide polymorphisms (SNPs) that may affect the expression of Vel antigen.@*RESULTS@#Among 3328 blood donors, 14 were identified as heterozygotes for the SMIM1 c.64_80del allele, its allele frequency was 0.21%; no homozygous SMIM1 c.64_80 deletions was found. For SNP rs1175550, all of the 14 individuals had an AA genotype, among whom 5 carried heterozygous 7111ins GCA variant in intron 2.@*CONCLUSION@#The allelic frequency of SMIM1 c.64_80del in Yili area is approximately 0.21%, which is reported for the first time.

The First Known Case of Blood Group Chimerism in Monochorionic Dizygotic Twins in Korea

No abstract available.

Alelos RHD nulos en pacientes RhD negativo de una población hospitalaria de la ciudad de Rosario / RHD null alleles in RhD negative patients from a hospital of Rosario

El fenotipo RhD negativo en la población caucásica es causado por una deleción completa del gen RHD. Sin embargo, han sido reportadas regiones específicas de este gen en individuos RhD negativo de diferentes grupos étnicos. El objetivo de este trabajo fue investigar la presencia de alelos RHD nulos en pacientes RhD negativo que concurrieron al Hospital Provincial del Centenario. Se tipificaron 12672 individuos y se seleccionaron las muestras RhD negativo halladas. Se determinó el fenotipo Rh completo y posteriormente se investigó la presencia del gen RHD utilizando una estrategia de PCR multíplex. En las muestras que presentaron fragmentos RHD específicos se realizaron reacciones de PCR alelo específicas para determinar el origen de los exones. Se encontraron 653 (5.15%) muestras RhD negativo. Cincuenta y cinco (8.42%) presentaban al menos el antígeno RhC o RhE. Los estudios moleculares permitieron detectar 7 alelos RHD Psi, 5 alelos híbridos RHD-CE(3-7)-D, 2 alelos híbridos RHD­CE(3-9)-D y 1 alelo nuevo RHD (46 T>C). La frecuencia de individuos RhD negativo en la población estudiada fue significativamente menor a la reportada en caucásícos. Los resultados moleculares obtenidos indican que 2.30% (15/653) de los individuos que no expresan el antígeno D son portadores de alelos RHD nulos. Los alelos RHD-CE(3-7)-D, RHD-CE(3-9)-D y RHD (46 T>C) están presentes únicamente en individuos RhD negativo que expresan los antígenos RhC y/o RhE con una frecuencia del 14.50% (8/55). Por otro lado, el alelo RHD Psi está asociado exclusivamente al fenotipo dccee, siendo el 1.17% (7/598) de estos individuos portadores del pseudogen RHD Psi. Estos hallazgos señalan la importancia del estudio del polimorfismo molecular del locus RH para el desarrollo de estrategias de tipificación de ADN confiables, que permitan realizar la genotipificación RHD prenatal y optimizar la selección de unidades a transfundir en los Bancos de Sangre.

The RhD negative phenotype in Caucasians is mainly caused by a complete deletion of the RHD gene. However, specific regions of the RHD gene in RhD negative individuals have been reported in different ethnic groups. The purpose of this study was to analyse the presence of silent RHD alleles in RhD negative patients concurring to the Hospital Provincial del Cen­tenario. Blood samples from 12672 individuals were studied and the RhD negative phenotypes were selected. Initially, the complete Rh phenotype was determined and DNA samples were screened using a multiplex PCR strategy to detect the presence of an RHD allele. Samples carrying RHD specific fragments were further studied by RHD exon scanning with allele specific PCR. 653 samples out of the 12672 (5.15%) were found RhD negative. Within this group, 8.42 % were either RhC positive or RhE positive. Molecular studies detected 7 RHD Psi alleles, 5 RHD-CE(3-7)-D hybrid alleles, 2 RHD-CE(3-9)-D hybrid alleles and 1 RHD (46 T>C) novel allele.The frequency of RhD negative individuals observed in the population studied was lower than that reported for Caucasians. Molecular analysis showed that 2.30% (15/653) of the individuals with no expression of the D antigen carry RHD null alleles. RHD­CE(3-7)-D, RHD-CE(3-9)-D and RHD (46 T>C) alleles are present only in individuals expressing either RhC or RhE with a frequency of 14.55% (8/55). The RHD Psy is associated with the dccee phenotype and 1.17% (7/ 598) of these individuals carries the RHD Psi pseudogen. These findings highlight the importance of studying the molecular polymorphism of the RH locus so as to develop reliable DNA typing strategies.

Estudio de las variantes alélicas del gen FUT2 en una población de Rosario, Santa Fe / Allele of FUT2 gen variables in a population of Rosario, Argentina

El estado secretor de un individuo está determinado por el gen Secretor (FUT2), responsable de la presencia de antígenos ABH en las secreciones del organismo. El polimorfismo del gen FUT2 muestra una gran variabilidad dependiente del tipo de población. Alrededor del 20% de los individuos caucásicos son no­secretores y presentan la mutación G428A. El objetivo de este trabajo fue estudiar las variables alélicas del gen FUT2 en una población de Rosario. Se trabajó con muestras de sangre periférica de dadores voluntarios (n=1728). Se determinó el estado secretor en plasma y saliva y el fenotipo Lewis. El ADN genómico fue extraído por la técnica de salting-out modificada y fue analizado por ASA-PCR con cebadores específicos para el alelo G428A y para el alelo wild type del gen FUT2. Los resultados obtenidos mostraron que el 77% de los individuos investigados fueron secretores y presentaron el fenotipo Lewis Le(a-b+). El polimorfismo G428A estuvo presente en homocigosis en un 7.5%, valor menor al reportado en la bibliografía para la población caucásica. El análisis molecular del gen FUT2 confirmaría la diversidad genética de la población investigada y podría ser utilizada como un marcador poblacional.

The secretor status is determinate by the secretor gene (FUT2) responsible of the ABH antigens expression in human secretions. About 20% of Caucasian individuals are non-secretors. The aim of this study was to study the allelic varieties of the FUT2 gene by a PCR reaction. We worked with peripheral blood samples of volunteers (n= 1728). We determinated the secretor status in plasma and saliva. The genomic DNA was extracted by an enzymatic digestion method and was analyzed by ASA-PCR with specific primers for the G428A allele and for the wild type allele of the FUT2 gene. The results obtained by serologic and molecular methods showed that the 77% of the investigate individuals were secretors. The G428A polymorphism had present in a 7.5%. The allelic varieties of the other non-secretor individuals different to the G428A might to correspond to other mutations. The molecular analysis of the FUT2 gene confirms the genetic diversity of the investigated population.

Molecular biology advance in the Rh blood group system / 法医学杂志

The Rh blood group system is one of the most complex of the known human blood group polymorphisms, including above 45 blood group antigens. Considerable progress has been made in our understanding of the molecular basis of Rh in the past 10 years. The bases of Rh inheritance, RH gene and its evolution, the structure and function of Rh complex, as well as nonerythroid Rh homolog, have been determined. Further improvements have been made in the technology of Rh genotyping. The review provides an update on the advance of Rh blood group to give information in the practice of forensic science.

Blood group genotyping / Genotipagem de grupos sangüíneos

Os antígenos eritrocitários são herdados geneticamente e definidos por seqüências de aminoácidos específicos constituindo uma proteína ou por carboidratos ligados a estas proteínas ou à lipídios. A diversidade dos antígenos de grupos sangüíneos, como para qualquer outro traço biológico, encontra-se ao nível do gene. Existem atualmente mais de 250 antígenos eritrocitários que se encontram distribuídos em 29 sistemas de grupos sangüíneos, de acordo com a Nomenclatura da Sociedade Internacional de Transfusão Sangüínea (ISBT). Os genes que codificam 28 dos 29 sistemas de grupos sangüíneos já foram clonados e seqüenciados. Assim, os problemas que ainda não são resolvidos por testes sorológicos podem ser agora solucionados por técnicas moleculares. O objetivo desta revisão é apresentar os mecanismos moleculares responsáveis pelo aparecimento dos antígenos associados aos fenótipos de grupos sangüíneos; mostrar a aplicação da técnica de PCR na medicina transfusional e materno-fetal, e discutir os problemas clínicos que potencialmente podem ser resolvidos pelas técnicas moleculares. A possibilidade de realizar genotipagem de grupos sanguíneos em conjunto com hemaglutinação muda a gama de possibilidades nos procedimentos transfusionais aumentando assim a segurança dos pacientes transfundidos. No entanto, é importante lembrar que a detecção de um gene através das técnicas de genotipagem molecular não significa necessariamente que a proteína carreando o antígeno será expressa. Assim, resultados falso-negativos e falso-positivos podem ocorrer. Embora seja pouco provável que a genotipagem molecular venha a substituir a hemaglutinação nos próximos anos, estas técnicas utilizadas em conjunto têm um valor potencial importante na segurança transfusional e materno-fetal.

Frequency of the hypervariable DNA loci D18S849, D3S1744, D12S1090 and D1S80 in a mixed ancestry population of Chilean blood donors

Blood donors (N = 150) at San José Hospital (Santiago, Chile) were typed for one VNTR locus (D1S80) and three STR loci (D18S849, D3S1744, D12S1090). A questionnaire was used to determine the socioeconomic level of the donors, because it is known that some genetic markers (e.g., the ABO and Rh groups) are differentially distributed between different socioeconomic strata. This methodology revealed that two of the three socioeconomic strata distinguishable in Santiago were present in our sample of blood donors, with stratum II representing the middle strata and stratum III the low strata. Allele frequency was determined for each locus and socioeconomic stratum, and it was found that the allele distributions of each locus in socioeconomic strata II and III were statistically similar. All loci conformed to the Hardy-Weinberg law and there was no evidence for association between the alleles of the four loci, allelic frequencies being similar to those found in North American Hispanic populations. The results support the view that the analysis of these loci may have useful applications in population genetics as well as in identity tests

Análisis de varios marcadores genéticos clásicos en la población de Costa Rica / Analysis of various classical genetic markers in the Costa Rica population

A study of several loci blood groups (ABO, Diego, Duffy, Kell, Kidd, Lewis, Lutheran, MNSs, P, Rhesus and Secretor), and Hp serum protein was carried out on a sample of 2,196 unrelated Costa Rican individuals of both sexes. Data was classified and analyzed according to geographic regions. Gene frequencies and the goodness of fit to Hardy-Weinberg equilibrium were estimated by the maximum likelihood method. A geographic structuring was observed in the Costa Rican population. All the regions of Costa Rica show higher heterozigosity values than the ones observed in the indigenous Costa Rican groups, but similar or slightly higher than the ones observed in the Spanish populations. The genetic distance analysis evidenced that the regions of Costa Rica group close to each other in intermediate positions between the Amerindians and the Spanish, fact that is coherent with the statement that attributes a intermediate origin to the general population of Costa Rica. The data contradicts the idea that the Central region has a radically different population than the rest of the country. The outcome of these markers revealed poor values of exclusion probability in forensic and paternity cases, which confirms the importance of their replacement for DNA markers in the outlines of human identification of judicial investigation systems. These results are similar to other studies made in Latin American populations.

Genetic similarity and mate selection in Brazil

Mating patterns in humans may be affected by many variables. Previous findings, in paternity tests, of a higher average blood group genetic similarity for nonexcluded a compared to excluded or randomly paired individuals prompted the present studt, to verify if these results could be confirmed. A total of 769 couples was considered, the comparisons being made in relation to 14 loci which are expressed on blood. Excluded and nonexcluded, real couples and random pairs showed minimal differences in degree of genetic similarity. Humans choose their mates prefenrially but, as far these results indicate, independently of the genetic systems tested.

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

Blood group gene frequency in a selected north Indian population.

Gene frequencies have been calculated from 6334 blood donors who were tested at a referral hospital in north India, for ABO & Rh and from > 350 donors who were tested for other blood groups. The Hardy Weinberg equation for 2 allel systems and the Bernstein method for 3 or more allel systems have been employed for calculating gene frequencies. The predominance of blood group B (37.39%), Rh D negative frequency of 4.63 per cent, predominance of M gene (0.6383) and M s haplotype (0.4464) and S gene frequency below 0.3 (0.2069) agrees with earlier data. The new findings include the presence of the allels Fy (a-b-) (0.44%) in the Duffy group, S- s- (1.16%) in the Ss group and JK (a-b-) (0.54%) in the Kidd blood group system. These have not been reported in the Indian population.

Razas humanas y hémato-ser-antropología: orígenes de los indígenas de Chile y nativos pascuenses en el concierto de las razas humanas / Human races and hemato-sero-anthropology: origins of Chilean natives and natives from Easter Island in the context of human races

Geographical hematology of Bernard and Ruffie, or Hemato-ser-anthropology, intends to establish relationships between hereditary genetic characters of the blood and human races. Blood groups, haptoglobins, abnormal hemoglobin and other biological traits such as color vision are related to the origin of human races, their geographical distribution, history, settlements drifts, invasions, customs, religious beliefs, cult to ancestors dead modifications, culture, language, writting, sculpture, painting and pottery. Our investigations are aimed to locate Chilean natives and natives from Easter Island in the context of human races

Análisis de paternidad: experiencia en Colombia / Paternity analysis: experience at Colombia

Subjects and methods: Fourteen serologic and electrophoretic genetic markers, that had a high probability of exclusion were analyzed in 349 cases of uncertain paternity. Results: In 50 cases, paternity was excluded and in 34, paternity was attributed with a probability over 0.99. In 85 cases, the paternity index was between 19 and 100, that classifies paternity as probable and in 179 cases, the analysis was inconclusive. Conclusions: These genetic markers may be useful in the first approach to a paternity in investigation