Molecular analysis of the GYPB gene to infer S, s, and U phenotypes in an admixed population of Minas Gerais, Brazil

OBJECTIVE: To implement genotyping for S, s and U antigens of the MNS blood group system at the Fundação Hemominas and to evaluate the occurrence of GYPB gene polymorphisms associated with the U- and U+var phenotypes and deletion of the GYPB gene for the first time in an admixed population of Minas Gerais, Brazil. The S, s and U antigens can cause transfusion reactions and perinatal hemolytic disease. Genotyping is a useful tool in immunohematology, especially when phenotyping cannot be performed. METHODS: Ninety-six samples from blood donors and patients with sickle cell disease previously phenotyped for the S, s and U antigens were selected. Allele-specific primer polymerase chain reaction (ASP-PCR) and polymerase chain reaction -restriction fragment length polymorphism (PCR-RFLP) assays were employed to identify the GYPB*S and GYPB*s alleles and the GYPB(P2) and GYPB(NY) variants, as well as deletion of the GYPB gene. RESULTS: The results of allele-specific genotyping (GYPB*S and GYPB*s) were totally in agreement with the phenotyping of S+ (n = 56), s+ (n = 60) and s- (n = 35) samples. However, the GYPB*S allele, in association with the GYPB(P2) variant, was detected in 17.5% of the S- samples (n = 40), which shows the importance of assessing this variant in the Brazilian population. Of the S-s- samples (n = 10), 60% had the deletion of the GYPB gene and 40% were homozygous or hemizygous for the GYPB(P2) variant. CONCLUSION: Genotyping was an effective strategy to infer the S, s, and U phenotypes in the admixed population from Minas Gerais (Brazil) and may contribute to transfusion safety.

Research advances of genomic GYP coding MNS blood group antigens / 中国实验血液学杂志

The MNS blood group system includes more than 40 antigens, and the M, N, S and s antigens are the most significant ones in the system. The antigenic determinants of M and N antigens lie on the top of GPA on the surface of red blood cells, while the antigenic determinants of S and s antigens lie on the top of GPB on the surface of red blood cells. The GYPA gene coding GPA and the GYPB gene coding GPB locate at the longarm of chromosome 4 and display 95% homologus sequence, meanwhile both genes locate closely to GYPE gene that did not express product. These three genes formed "GYPA-GYPB-GYPE" structure called GYP genome. This review focuses on the molecular basis of genomic GYP and the variety of GYP genome in the expression of diversity MNS blood group antigens. The molecular basis of Miltenberger hybrid glycophorin polymorphism is specifically expounded.

Molecular polymorphism of gypa gene in association with MN human blood group in Chinese Han population / 中国实验血液学杂志

This study was purposed to investigate the molecular polymorphism of gypa gene in association with MN human blood group in Chinese Han population. The MN phenotypes of 202 random samples from unrelated Chinese Han volunteers were identified by serology techniques. The primer for gypa gene exon 2 were designed and synthesized according to reference sequences of NG-007470 gene from GenBank, the DNA of 202 samples was amplified by PCR, at the same time, the amplified products were analyzed by direct DNA sequencing. The results showed that all samples had 2 base substitutions at 1st and 56th nt of gypa exon 2, among them the MN phenotype heterozygote exited mainly in the form of 1A > C, 22T/C, 34A/G, 35T/G, 56T > C; the MM phenotype homozygote exited mainly in the form of 1A > C, 22C, 34G, 35T, 56T > C; the NN phenotype homozygote exited mainly in the form of 1A > C, 22T, 34A, 35G, 56T > C. It is concluded that the polymorphism of gypa gene in associated with MN blood group in Chinese Han population is decided by 5 nucleotide sites of 1, 22, 34, 35 and 56. The bases of 1 and 56 are non-functional gypa single nucleotide polymorphism.

Poblaciones costeras de Chile: marcadores genéticos en cuatro localidades / Coastal Chilean populations: genetic markers in 4 locations

Background: Historical and anthropological data suggest the presence of descendents of Changos, Cuncos, Chonos and Yamanas, South American indian populations, in certain Chilean coastal villages. Aim: To assess the degree of South American indian admixture in Chilean coastal villages using protein markers, to complete the assessment of human biological diversity in Chile. Subjects and methods: AB0, Rh, MNS, Duffy and Kidd blood group systems were assessed in 47, 48, 55 and 24 individuals from Paposo, Carelmapu, Laitec and Ukika respectively. Phenotypic and gene frequencies were calculated. The degree of South American indian admixture was estimated from the AB0*0 allele and Rh*dce haplotypes. Results: High frequencies of AB0*0, Fy*a, Jk*b alleles, Dce and Ms haplotypes were found in all villages, consistent with the pattern expected for South AmericanAboriginal populations. The highest presence of South American indian admixture was present in Laitec with 80 per cent and in Ukika with 74 per cent. The figures for Paposo and Carelmapu were 60 and 65 per cent respectively. Conclusions: Accordin g to South American indian admixture estimates, the genetic isolation of coastal populations is lower than that of inland subjects, suggesting thatsea proximity facilitates gene flow

Hipertensión arterial y marcadores de grupo sanguíneo: asociación con el polimorfismo MN / Hypertension and blood group markers: association with MN polymophins

El objetivo de este trabajo fue analizar la relación entre presión arterial y marcadores genéticos eritrocitarios MN. La expresión de los antígenos M y N, se investigó por el Test de hemaglutinación en tubo, en una muestra de 164 individuos clasificados según presión arterial (normales e hipertensos) y fenotipo MN. De los 53 pacientes hipertensos, los porcentajes de cada fenotipo fueron: MN 56,6 por ciento,MM 34,0 por ciento, NN 9,4 por ciento mientras que entre los 111 individuos normotensos, la distribución resultó: MN 70,3 por ciento, MM 18,9 por ciento y NN 10,8 por ciento. De los resultados obtenidos en este trabajo, por la Prueba x², se concluye que sólo existe asociación entre el fenotipo MM y la hipertensión arterial. Diferencias en el patrón de agregación, debido a diferencias estructurales de los distintos grupos sanguíneos, podrían generar susceptibilidad a cambios en la viscosidad sanguínea, afectando el proceso de perfusión. El estudio de marcadores eritrocitarios, que pueden ser determinados por metodologías accesibles, podrían aportar datos de interés para la investigación de factores de riesgo en el desarrollo de la hipertensión arterial

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

Prueba cruzada incompatible contra el sistema M N S S / Testing cross incompatible against the system M N S S

Se presentan 6 casos de pacientes de 1 a 22 años de edad, atendidos entre 1985 y 1994, sensibilizados post transfusión: 4 por anti M y 2 por anti S. 4 con IgM. 2 de ellos tenían además componetne IgG. A estos pacientes con historia de anemias, quemaduras o neoplasias y transfusiones previas se les solicitó sangre para cirugía; al realizar las pruebas cruzadas se encontró que 40 sangres fueron incompatibles. Se identificó la especificidad y se procedió a fenotipear sangres para este sistema y finalmente los pacientes se transfundieron sin problema

Asociación de marcadores eritrocitarios (ABO, MNSs, Rh, Lewis, P1) con recurrencias y anomalías anatómicas y funcionales en niños con infección del tracto urinario / Association of erythrocyt markers (ABO, MNSs, Rh, Lewis, P1) with recurrences and anatomical-functional abnormalities in children with urinary tract infection

Para contribuir a la identificación de niños con infección del tracto urinario con mayor riesgo de ubicación alta o baja, recurrencias y alteraciones radiológicas o ultrasonográficas (complicaciones) se estudiaron las asociaciones entre éstas y la distribución de marcadores eritrocitarios (ABO, MNSs, Rh, Lewis, P1) en 309 casos de infección urinaria. No se encontró asociación entre algún polimorfismo eritrocitario en particular con las mencionadas categorías, pero si entre el fenotipo P1 y la etiología Escherichia coli (OR=3,07; IC 95 porciento=1,13 a 8,6; p<0,02) y la ausencia de etiología no E. coli con el fenotipo B+(0/26) sin llegar a niveles de significación. Estos hallazgos sugieren que en niños con infección urinaria, estos fenotipos, por separado, probablemente tienen acciones independientes y aditivas

Detection of A, B, H, M, N, and Rh D antigens in human bones

The identity of the dead is an essential part of postmortem examination for official, moral, ethical, humanitarian and legal purposes. If all soft tissues are absent or partial skeleton is found, as in mass disasters, identity depends only on osteological examination. The bones must be examined for any idiosyncratic features that give them personal identity. Both simple and modified elution methods were done for detection of A, B, O, RhD and M, N antigens in compact and cancellous bones after the lapse of different periods of time. Detection of these antigens in the cancellous bones using the modified elution method proved to be more reliable than the simple elution method. The time period in which the antigens were best detected was between two and 10 years. The results obtained help the forensic scientist in the identification of bony remains

HLA A/B recombination in a white woman with the S-s-phenotype of the MNS system

Em casos de investigaçäo de parentesco, a possibilidade de ocorrência simultânea de eventos populacionalmente raros deve ser cogitada. Objetivo. Relatar um caso em que coexistiram recombinaçäo HLA-A/B e homozigosidade para alelo silencioso característico de negros numa pessoa aparentemente sem esta miscigenaçäo. Métodos. Suposto pai, mäe e filhos gêmeos dizigóticos foram racialmente classificados por seu caracteres somáticos aparentes. Fenotiparam-se marcadores genéticos de grupos sanguíneos dos sistemas ABO, Rh, MNS, Kell, Duffy, HLA-A, -B; a genotipagem do sistema HLA da mäe foi feita pelo exame de seus pais. REsultados. O fenótipo da mäe, branca, no sistema MNS, foi M+, N-;S-;s-. Houve compatibilidade fenotípica entre o suposto pai e ambos os gêmeos. A maternidade presumida em relaçäo a ambas as crianças seria possível se a mäe apresentasse uma recombinaçäo HLA-A/B. Conclusäo. Em populaçöes miscigenadas, a dissociaçäo entre caracteres somáticos aparentes e marcadores de grupos sanguíneos é previsível. Devem-se estimar as freqüências alélicas/haplotípicas destas populaçöes. Casuisticamente, a associaçäo de eventos de baixa freqüência populacional pode ser a causa de aparentes exclusöes de parentesco

Determination of MN blood groups

In this study, samples of blood were collected from two hundred femalevolunteers aging between 18 and 23 years old. Two methods for MN groupingwere done, the first was "tube technique method", while the second was "tilemethod". Also, factors which may affect grouping by the two methods includingtime of reading of the reaction and the dilution of antiserum were tried. Theresults of grouping by using both tube and tile methods indicated that thehighest percentage [46%] was for MN blood group, followed by M blood group[34%], while N blood group showed the lowest one [20%]. Tube methodapplication revealed that M antigen was more potent than N antigen, so itsreaction was stronger. It was also found that best results can be obtainedwhen the antisera used are fresh, of a dilution ranging between 1/32 up to1/64 and the best time of reading of the reaction is after lapse of 3 hoursbut can be read with less strength after 2 hours. When the tile method wasapplied, strong +ve results for M antigen was found, and the best time ofreading was after 30 seconds from adding corresponding RBCs. The bestsuitable dilution for the reaction was 1/32 up to 1/64 for MN grouping

The distribution of MNSs blood groups in Sri Lanka and their significance in paternity testing.

MNSs blood grouping was done on a random sample of 700 blood donors at the Central Blood Bank and at some of the Mobile Units, from September 1980 to August 1981. The distribution of M,N, Ss and combined MNSs phenotypes and their corresponding genotypes among Sri Lankans was evaluated. The frequencies of these phenotypes are different from those of Caucasians. The significance of MNSs blood grouping in the investigation of doubtful paternity is discussed.

Desarrollo de anticuerpos anti-N-Like en pacientes hemodializados / Developmetn of antibodies anti-N-like in hemodialyzate patients

Comprobamos en un estudio poblacional, sobre anticuerpos anti-N-Like en enfermos renales crônicos, que cuando se esterilizan los filtros con formol, la aparición de este anticùerpo está en relación directa con el tiempo. Es el factor más importante y casi inexorablemente los enfermos van en camino de sensibilizarse, en la medida en que se prolongue su permanencia en hemodiálisis