RESUMEN
Human blood groups are a significant resource for patients, leading to a fierce international competition in the screening of rare blood groups. Some rare blood group screening programs have been implemented in western countries and Japan, but not particularly in China. Recently, the genetic background of ABO and Rh blood groups for different ethnic groups or regions in China has been focused on increasingly. However, rare blood groups such as MN, Duffy, Kidd, MNS, and Diego are largely unexplored. No systematic reports exist concerning the polymorphisms and allele frequencies of rare blood groups in China's ethnic minorities such as Uygur and Kazak populations of Xinjiang, unlike those on the Han population. Therefore, this study aimed to investigate the allele frequencies of rare blood groups, namely, MNS, Duffy, Kell, Dombrock, Diego, Kidd, Scianna, Colton, and Lutheran in the Uygur population of Xinjiang Single specific primer-polymerase chain reaction was performed for genotyping and statistical analysis of 9 rare blood groups in 158 Uygur individuals. Allele frequencies were compared with distribution among other ethnic groups. Observed and expected values of genotype frequencies were compared using the chi-square test. Genotype frequencies obeyed the Hardy-Weinberg equilibrium (P > 0.5) and allele frequencies were stable. Of all subjects detected, 4 cases carried the rare phenotype S-s- of MNS blood group (frequency of 0.0253), and 1 case carried the phenotype Jka-b- (frequency of 0.0063). Frequencies of the four groups, MNS, Duffy, Dombrock, and Diego, in the Uygur population differed from those in other ethnic groups. Gene distribution of the Kell, Kidd, and Colton was similar to that in Tibetan and Han populations, though there were some discrepancies. Gene distribution of Scianna and Lutheran groups showed monomorphism similar to that in Tibetan and Han populations. These findings could contribute to the investigation of the origin, evolution, and hematology of Uygur population of Xinjiang and assist in screening of rare blood groups in ethnic minorities, meeting of clinical blood supply demands, and building of the national rare blood group library.
Asunto(s)
Sistema del Grupo Sanguíneo Duffy/genética , Sistema del Grupo Sanguíneo de Kell/genética , Sistema del Grupo Sanguíneo MNSs/genética , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Pueblo Asiatico/genética , Niño , Preescolar , China , Femenino , Frecuencia de los Genes , Genotipo , Humanos , Lactante , Masculino , Persona de Mediana Edad , Adulto JovenRESUMEN
We compared the serological phenotypic frequencies of ABO, MNSs, and Duffy in 417 blood donors and 309 malaria patients from four Brazilian Amazon areas. Our results suggest no correlation between ABO phenotype and malaria infection in all areas studied. We observed significant correlation between the S +s +, S +s -, and S -s + phenotypes and malaria infection in three areas. Some of the Duffy phenotypes showed significant correlation between donors and malaria patients in different areas. These data are an additional contribution to the establishment of differential host susceptibility to malaria.
Asunto(s)
Sistema del Grupo Sanguíneo ABO/genética , Sistema del Grupo Sanguíneo Duffy/genética , Sistema del Grupo Sanguíneo MNSs/genética , Malaria/sangre , Fenotipo , Adulto , Donantes de Sangre , Brasil , Estudios de Casos y Controles , Femenino , Humanos , MasculinoRESUMEN
Genetic variation, using blood groups and red cell and serum proteins, was surveyed in the Cabecar of Chirripo and the Huetar of Quitirrisi, Costa Rica. Thirty-nine loci were screened in a sample of 91 Cabecars and 40 loci in 45 Huetars. Twenty-seven loci were monomorphic in the Cabecar and 30 in the Huetar. The proportions of polymorphic loci (P), out of 34 studied by electrophoresis, were 0.235 and 0.177, respectively. Estimated gene diversities (H) of the polymorphic loci were 0.050 in the Cabecar and 0.053 in the Huetar. Two polymorphisms, reported until now in Costa Rican and Panamanian Chibchan groups only, occurred at very high frequencies: TF*DGUA = 0.357 in the Cabecar, the highest frequency ever reported, and 0.033 in the Huetar; and PEPA*F, which reached 0.26 in the Cabecar and 0.29 in the Huetar. Nei's genetic distances and trees (two methods) were used to compare them to seven other Chibchan tribes of Costa Rica. The results placed both the Cabecar of Chirripo and the Huetar closer to the Talamancan Tribes (Bribri and Cabecar). This was an unexpected result for the Huetar, since linguistic studies suggested a closer relationship to the Guatuso. GST, DST, RST, and Dm for three Cabecar subpopulations (Atlantic, Chirripo, and Pacific) doubled their values compared to estimates based on comparison of only two subpopulations: Atlantic and Pacific. Total genetic diversity considering just the three Cabecar subpopulations resembled that obtained including them plus six other Chibchan populations of Costa Rica.
Asunto(s)
Sistema del Grupo Sanguíneo ABO/genética , Proteínas Sanguíneas/genética , Sistema del Grupo Sanguíneo Duffy/genética , Eritrocitos/química , Frecuencia de los Genes/genética , Variación Genética/genética , Indígenas Centroamericanos/genética , Sistema del Grupo Sanguíneo MNSs/genética , Sistema del Grupo Sanguíneo P/genética , Polimorfismo Genético/genética , Sistema del Grupo Sanguíneo Rh-Hr/genética , Evolución Biológica , Electroforesis de las Proteínas Sanguíneas , Costa Rica , Humanos , Funciones de Verosimilitud , Lingüística , FilogeniaRESUMEN
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
Asunto(s)
Humanos , Femenino , Recién Nacido , Tamización de Portadores Genéticos , Antígenos de Grupos Sanguíneos/genética , Reproducción/genética , Anomalías Congénitas/genética , Historia Reproductiva , Heterocigoto , Homocigoto , Isoanticuerpos/aislamiento & purificación , Genética Médica , Sistema del Grupo Sanguíneo ABO/genética , Sistema del Grupo Sanguíneo de Kidd/genética , Sistema del Grupo Sanguíneo Duffy/genética , Sistema del Grupo Sanguíneo MNSs/genética , Sistema del Grupo Sanguíneo Rh-Hr/genéticaRESUMEN
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
Asunto(s)
Humanos , Masculino , Femenino , Fenotipo , Antígenos HLA-A/genética , Antígenos HLA-B/genética , Recombinación Genética , Paternidad , Alelos , Marcadores Genéticos , Sistema del Grupo Sanguíneo MNSs/genéticaRESUMEN
In cases of disputed parentage, the possibility of simultaneous occurrence of rare events in the population must be considered. PURPOSE--To report a case in which HLA-A/B recombination and homozygosity of a silent allele, typical of Negroes, in an individual apparently without this miscegenation were coexistent. METHODS--Alleged father, mother and dizygotic twin children were racially classified according to their apparent somatic characters. Blood group genetic markers of ABO, Rh, MNS, Kell, Duffy, HLA-A, -B systems were phenotyped; mother's HLA genotyping was performed by her parents test. RESULTS--The phenotype of the White mother, in the MNS system, was M+; N-; S-; s-. Alleged father and both twins were phenotipically compatible. The assumed maternity relating to both children was possible if mother presented an HLA-A/B recombination. CONCLUSION--In miscegenated populations, the breakup between ethnical appearance and blood group markers is foreseeable. Allele/haplotypic frequencies of these populations should be estimated. Casuistically, the association of events with low frequency in the population can be the cause of apparent exclusions of parentage.
Asunto(s)
Antígenos HLA-A/genética , Antígenos HLA-B/genética , Fenotipo , Recombinación Genética , Alelos , Femenino , Marcadores Genéticos , Humanos , Sistema del Grupo Sanguíneo MNSs/genética , PaternidadRESUMEN
A case-control study on the association between genetic markers (ABO, Rh, MNSs and sex) and typhoid fever (TF) was performed. We found that (a) the B allele conferred protection to females for TF and a mild susceptibility to males; (b) the CDe haplotype (or the RH3 phenotype, mostly CDe/CDe) was associated with protection against Salmonella in both sexes, while cDE (or RH7, mostly cDE/cDE, and RH8, mostly cDE/cde) was associated with susceptibility to TF, and (c) heterozygotes Ss (MNSs system) had a high susceptibility, while SS and particularly ss homozygotes seemed to be protected for the disease. There were very significant interactions among the blood systems and sex.
Asunto(s)
Sistema del Grupo Sanguíneo ABO/genética , Sistema del Grupo Sanguíneo MNSs/genética , Sistema del Grupo Sanguíneo Rh-Hr/genética , Caracteres Sexuales , Fiebre Tifoidea/genética , Estudios de Casos y Controles , Niño , Chile , Femenino , Marcadores Genéticos , Humanos , Masculino , Fiebre Tifoidea/sangreRESUMEN
We present segregation distortions for the MNSs system and for the sex ratio found among 400 mother-newborn pairs, from the northern Area of Santiago and the middle-low and low socioeconomic strata. Three subsamples were taken: from the non private patients of the Clinical Hospital of the University of Chile; from the Hospital San José, a public hospital of this Area; controls of malformed newborns belonging to an international study from the Clinical Hospital of the University of Chile. In spite of the almost homogeneity of socioeconomic strata and area, the differences among these subsamples did not allow us to take them as only one sample. We found excess of heterozygous individuals for the MN locus, specially among mothers. Ss heterozygotes had a higher sex ratio than ss homozygotes. Several distortions could not be dealt with as having a regular pattern in the three subsamples. A possible technical error is discussed.
Asunto(s)
Variación Genética/genética , Sistema del Grupo Sanguíneo MNSs/genética , Chile , Femenino , Frecuencia de los Genes/genética , Humanos , Recién Nacido , Masculino , Madres , Fenotipo , Razón de Masculinidad , Clase SocialRESUMEN
Con el propósito de contribuir al conocimiento de la composición genética de las poblaciones humanas en el Estado de Nuevo León y basándose en el hecho de que los análisis de las frecuencias relativas de diferentes características genéticas en grupos de personas que sufren de varios estados de enfermedad han ayudado para indicar el componente genético que, a un mayor o menor grado están presentes en la mayoría de las enfermedades humanas, fueron analizadas las frecuencias para los grupos sanguíneos ABO, Rh(D), MN y Jell, así como la habiliddad para gustar la feniltiocarbamida (FTC), la presencia de vellos en la falange media, uso de las manos y la preferencia para el cruzado de manos y brazos, en 350 pacientes que padecían asma, rinitis alérgica (fiebre de heno) y diferentes alergias de piel, y 172 personas testígos comparadas por edad y sexo. Pacientes con rinitis mostraron frecuencias más altas de los grupos sanguíneos M y K(-), sensibilidad positiva a la FTC, presencia de vello en la falange digital media, cruzado izquierdo de mano y brazo. Pacientes con asma tenían alta frecuencia de grupo sanguíneos Rh(+) y K(-) y personas con alergias de piel mostraron altos porcentajes de grupo sanguíneo M
Asunto(s)
Humanos , Genética de Población , Antígenos de Grupos Sanguíneos/genética , México , Sistema del Grupo Sanguíneo de Kell/genética , Sistema del Grupo Sanguíneo MNSs/genética , Sistema del Grupo Sanguíneo Rh-Hr/genéticaRESUMEN
Se realiza un estudio comparativo de los sistemas ABO y Rh- (D) entre dos grupos; uno control (seleccionado mediante un muestreo irrestricto aleatorio en el municipio de Pinar del Río) y otro de pacientes afectados de diabetes mellitus tipo II. Los resultados de las comparaciones no fueron significativos y se concluye que parece no existir asociación de estos sistemas con la entidad ya descrita. Se informan las frecuencias del sistema MN en el grupo de pacientes y no se comparan con ningún grupo por no existir trabajos precedentes en la provincia
Asunto(s)
Humanos , Diabetes Mellitus Tipo 2 , Sistema del Grupo Sanguíneo ABO/genética , Sistema del Grupo Sanguíneo Rh-Hr/genética , Sistema del Grupo Sanguíneo MNSs/genéticaRESUMEN
Se realiza un estudio comparativo de los sistemas ABO y Rh- (D) entre dos grupos; uno control (seleccionado mediante un muestreo irrestricto aleatorio en el municipio de Pinar del Río) y otro de pacientes afectados de diabetes mellitus tipo II. Los resultados de las comparaciones no fueron significativos y se concluye que parece no existir asociación de estos sistemas con la entidad ya descrita. Se informan las frecuencias del sistema MN en el grupo de pacientes y no se comparan con ningún grupo por no existir trabajos precedentes en la provincia
Asunto(s)
Humanos , Sistema del Grupo Sanguíneo ABO/genética , Diabetes Mellitus Tipo 2 , Sistema del Grupo Sanguíneo MNSs/genética , Sistema del Grupo Sanguíneo Rh-Hr/genéticaRESUMEN
Five hundred and ten students of the Universidad Nacional Autónoma de México were tested to determine the distribution of ABO, MN, Rr-Hr blood groups, and serum haptoglobin, albumin, and Factor Bf types. Based on the results we found that the proportion of Indian and White genes are of 56.16 and 43.84%, respectively in the dihybrid model and 2.93, 56.22, and 40.85% for Blacks, Indians, and Whites in the trihybrid one. The present study reveals a higher proportion of Indian genes in the Mexico City population than estimated in previous publications. Reasons why the present results apply to a much larger group of Mexico City mestizos than the previous ones are given.
Asunto(s)
Frecuencia de los Genes , Sistema del Grupo Sanguíneo ABO/genética , Adolescente , Adulto , Población Negra , Femenino , Haptoglobinas/genética , Humanos , Indígenas Norteamericanos , Sistema del Grupo Sanguíneo MNSs/genética , Masculino , México , Persona de Mediana Edad , Modelos Genéticos , Fenotipo , Sistema del Grupo Sanguíneo Rh-Hr/genética , Muestreo , Albúmina Sérica/genética , Población BlancaRESUMEN
Os grupos sangüíneos dos sistemas ABO, MNSs e Rh (incluindo a variante D**u) foram estudados em uma amostra de 1259 recrutas brasileiros (941 caucasóides e 318 negróides) de Campinas, Estado de Säo Paulo, Brasil. Foram estimadas as seguintes freqüências gênicas para os caucasóides: A1 = 0,1808, A2 = 0,0543, B = 0,0698, O = 0,06951; M = 0,5627, N = 0,4373; R**O = 0,1094, R**1 = 0,4179, R**2 = 0,1515, R**z = 0,0052, r = 0,2975, r'=0,0155, r" = 0,0030. Entre os negróides, essas freqüências gênicas foram as seguintes: A1 = 0,1384, A2 = 0,0547, B = 0,0854, O = 0,7215; M = 0,5597, N = 0,4403; R**0 = 0,2781, R**1 = 0,2917, R**2 = 0,1523, R**z = 0,0049, r = 0,2676, r'=0,0054. A freqüência do gene D**u) foi estimada em 0,0063 entre os caucasóides e em 0,0055 entre os negróides
Asunto(s)
Sistema del Grupo Sanguíneo ABO/genética , Frecuencia de los Genes , Sistema del Grupo Sanguíneo MNSs/genética , Sistema del Grupo Sanguíneo Rh-Hr/genética , BrasilAsunto(s)
Antígenos de Grupos Sanguíneos/genética , Marcadores Genéticos , Neoplasias/genética , Sistema del Grupo Sanguíneo ABO/genética , Adulto , Anciano , Femenino , Frecuencia de los Genes , Genética de Población , Humanos , Sistema del Grupo Sanguíneo MNSs/genética , Masculino , México , Persona de Mediana Edad , Neoplasias/sangre , Sistema del Grupo Sanguíneo Rh-Hr/genéticaRESUMEN
During the last years we have been studying the phenotype and gene frequencies of blood groups and other genetic traits in order to learn the genetic composition of the human population in the State of Nuevo Leon. We tried to assess the influence of the different ancestral contributions in the degree of genetic diversity within the state, and also to evaluate the frequencies of some genetic traits in groups of persons suffering from various diseases. It has been found that for most traits the frequencies are intermediate to those reported for Mexican native and Spanish populations. It appears that the populations that recently immigrated to the State are the ones that have received more genetic influence from the Mexican natives, and those that have lived in the state since the last century are the ones that have received more genetic contribution from the Spanish.