RESUMEN
Cattle are a monotocous species, despite naturally conceived multiple births are sometimes observed. Although the number of twins has consistently increased, triplet and quadruplet pregnancies represent 0.015% and 0.004% of the total births, respectively. Multiple births are the result of multiple ovulation and/or the spontaneous cleavage of one fertilized oocyte, which is known as monozygotic (MZ) twinning. In cattle, approximately 5% to 14% of all twin births are MZ, and births with more than two MZ calves are extremely rare. Monozygotic animals are genetically identical, and those derived from two or more zygotes are genetically different. Furthermore, the presence of placental vascular anastomosis can result in foetal chimerism. Notwithstanding, animals born as single calves can be chimeras when one of the foetal twins dies undetected in utero. Here, we used DNA testing to study the zygotic condition of an unusual female quadruplet born from a Braford cow bred in a multi-sire natural mating system without hormone stimulation. Two tissues with different embryological origin were sampled to test zygosity and possible chimerism. The results showed an identical genotype, confirming they all originated in an MZ pregnancy and suggesting the lack of chimerism in all animals. The use of MZ twins in breeding and selection systems provides an alternative to the conventional progeny testing. Some works have suggested a genetic background of MZ twins in humans. This female and her daughters could be the founders of a lineage to study the possible inheritance of MZ multiple births in cattle.
Asunto(s)
Bovinos/genética , Bovinos/fisiología , Progenie de Nacimiento Múltiple/genética , Animales , Femenino , Genotipo , Tamaño de la Camada , Embarazo , Embarazo Múltiple/genética , Análisis de Secuencia de ADNRESUMEN
Multiple births or twinning in equids are dangerous, undesirable situations that compromise the life of the dam and resulting offspring. However, embryo vitrification and freezing techniques take advantage of individuals whose multiple ovulations allow flushing more fertilised embryos from the oviduct to be collected, increasing the productivity and profitability of reproductive techniques. Embryo preservation is especially important in highly endangered populations such as certain donkey (Equus asinus) breeds; for which conventional reproductive techniques have previously been deemed inefficient. For instance, becoming an effective alternative to artificial insemination with frozen semen to preserve the individuals' genetic material. The objective of this study was to examine the historical foaling records of Andalusian donkeys to estimate prevalence, risk factors, phenotypic and genetic parameters for multiple births, assessing the cumulative foal number born per animal, maximum foal number per birth and multiple birth number per animal. We designed a Bayesian General Animal Mixed Model with single records considering the 'fixed' effects of birth year, birth season, birth month, sex, farm, location, and husbandry system. Age was considered and included as a linear and quadratic covariate. Gibbs sampling reported heritability estimates ranging from 0.18⯱â¯0.101 to 0.24⯱â¯0.078. Genetic and phenotypic correlations ranged from 0.496⯱â¯0.298 to 0.846⯱â¯0.152 and 0.206⯱â¯0.063 to 0.607⯱â¯0.054, respectively. Predicted breeding values obtained enable the potential selection against/for these traits, offering a new perspective for donkey breeding and conservation.
Asunto(s)
Equidae/fisiología , Fertilidad/genética , Herencia , Tamaño de la Camada/genética , Progenie de Nacimiento Múltiple/genética , Animales , Teorema de Bayes , Especies en Peligro de Extinción , Equidae/genética , Femenino , Masculino , Modelos Genéticos , Factores de RiesgoRESUMEN
The new West Japan Twins and Higher Order Multiple Births Registry was established by recruiting young twins and multiple births and by referrals from public health centers in the 1990s. The participants included in the survey comprised over 7800 twins and 4241 higher order multiples, and their families. Specifically, the present registry contains one of the largest triplet samples in the world. For these twins and multiples, data on year of delivery, mode of delivery, gestational age, intrapartum complications, longitudinal physical measures, motor milestones, cerebral palsy and feeding methods were obtained from records in the Maternal and Child Health Handbooks and schools. Participating mothers were asked to indicate family structure, parental educational history, maternal sleeping time, maternal health condition, maternal and paternal age at multiple delivery, complications during pregnancy, handedness of multiples and age at menarche of multiples. However, the zygosity differed among the various collaborating public health centers according to factors such as the time of investigation. Follow-up questionnaires have been mailed out every 3-4 years for longitudinal studies. This article describes the goals of this registry, recruitment of multiples and the focus of the study. The goals of this registry are not only to conduct research on human genetics and maternal and child health, but also to contribute to providing appropriate information for families with multiples.
Asunto(s)
Enfermedades en Gemelos/epidemiología , Progenie de Nacimiento Múltiple/estadística & datos numéricos , Embarazo Múltiple/estadística & datos numéricos , Sistema de Registros/estadística & datos numéricos , Gemelos/estadística & datos numéricos , Niño , Preescolar , Enfermedades en Gemelos/genética , Femenino , Estudios de Seguimiento , Edad Gestacional , Humanos , Lactante , Recién Nacido , Japón/epidemiología , Masculino , Progenie de Nacimiento Múltiple/genética , Embarazo , Resultado del Embarazo , Encuestas y Cuestionarios , Gemelos/genéticaRESUMEN
It is desirable for twin researchers to be aware of the needs and concerns of families of multiples and provide participants with appropriate and useful feedback and advice based on scientific evidence. Our most recent database on families with twins throughout Japan is based on a questionnaire survey conducted in 2016. Mailed questionnaires, consisting of over 500 items, were used to collect the basic data. The response rate was 38% (566/1478). This is part of a nationwide study designed to assess the long-term effect of perinatal conditions on mothers of multiples. Its aim was to study the growth and development of multiples in childhood, and for the creation of a multifetal mother and child health handbook, and to conduct a genetic epidemiologic study to test the developmental origin of health and disease hypothesis. One of the ultimate aims of this research was to provide evidence-based information on parenting of multiples for families with multiples.
Asunto(s)
Bases de Datos Factuales/estadística & datos numéricos , Enfermedades en Gemelos/epidemiología , Progenie de Nacimiento Múltiple/estadística & datos numéricos , Sistema de Registros/estadística & datos numéricos , Gemelos/estadística & datos numéricos , Adolescente , Adulto , Niño , Preescolar , Manejo de Datos , Enfermedades en Gemelos/genética , Familia , Femenino , Estudios de Seguimiento , Humanos , Lactante , Recién Nacido , Masculino , Persona de Mediana Edad , Progenie de Nacimiento Múltiple/genética , Encuestas y Cuestionarios , Gemelos/genética , Adulto JovenRESUMEN
The tendency to conceive spontaneous dizygotic (DZ) twins is a complex trait with important contributions from both environmental factors and genetic disposition. In earlier work, we identified the first two genes as maternal susceptibility loci for DZ twinning. The aim of this study was to identify genetic variants influencing multiple births and to genetically correlate the findings across a broad range of traits. We performed a genome-wide association study (GWAS) in 8962 participants with Caucasian ancestry from UK Biobank who reported being part of a multiple birth, and 409,591 singleton controls. We replicated the association between FSHB, SMAD3 and twinning in the gene-based (but not SNP-based) test, which had been established in previous genome-wide association analyses in mothers with dizygotic twin offspring. Additionally, we report a novel genetic variant associated with multiple birth, rs428022 at 15q23 (p = 2.84 × 10-8) close to two genes: PIAS1 and SKOR1. Finally, we identified meaningful genetic correlations between being part of a multiple birth and other phenotypes (anthropometric traits, health-related traits, and fertility-related measures). The outcomes of this study provide important new insights into the genetic aetiology of multiple births and fertility, and open up novel directions for fertility and reproduction research.
Asunto(s)
Bancos de Muestras Biológicas , Proteínas Co-Represoras/genética , Progenie de Nacimiento Múltiple/genética , Proteínas Inhibidoras de STAT Activados/genética , Proteínas Modificadoras Pequeñas Relacionadas con Ubiquitina/genética , Gemelos Dicigóticos/genética , Gemelos Monocigóticos/genética , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Estudio de Asociación del Genoma Completo , Humanos , Masculino , Persona de Mediana Edad , Reino UnidoRESUMEN
Brazilian Santa Inês (SI) sheep are very well-adapted to the tropical conditions of Brazil and are an important source of animal protein. A high rate of twin births was reported in some SI flocks. Growth and Differentiation Factor 9 (GDF9) and Bone Morphogenetic Protein 15 (BMP15) are the first two genes expressed by the oocyte to be associated with an increased ovulation rate in sheep. All GDF9 and BMP15 variants characterized, until now, present the same phenotype: the heterozygote ewes have an increased ovulation rate and the mutated homozygotes are sterile. In this study, we have found a new allele of GDF9, named FecG(E) (Embrapa), which leads to a substitution of a phenylalanine with a cysteine in a conservative position of the mature peptide. Homozygote ewes presenting the FecG(E) allele have shown an increase in their ovulation rate (82%) and prolificacy (58%). This new phenotype can be very useful in better understanding the genetic control of follicular development; the mechanisms involved in the control of ovulation rate in mammals; and for the improvement of sheep production.
Asunto(s)
Factor 9 de Diferenciación de Crecimiento/genética , Ovulación , Ovinos/genética , Animales , Proteína Morfogenética Ósea 15/genética , Femenino , Progenie de Nacimiento Múltiple/genética , Reacción en Cadena de la Polimerasa , Polimorfismo de Longitud del Fragmento de Restricción , Ovinos/fisiologíaRESUMEN
Methods to infer parent numbers from offspring genotypes either determine the minimum number of parents required to explain alleles and multilocus genotypes detected in the offspring or use models to incorporate information on population allele frequencies and allele segregation. Disparate results by different approaches suggest that one or perhaps all methods are subject to bias. Here, we investigate the performance of minimum parent number estimates, maximum likelihood, and Bayesian analyses (programs COLONY and PARENTAGE) with respect to marker information content in simulated data sets without knowledge of parental genotypes. Offspring families of different sizes were assumed to share one parent and to be sired by 1 or 5 additional parents. All methods committed large errors in terms of underestimation (minimum value) and overestimation (COLONY), or both (PARENTAGE) of parent numbers, unless the data were highly informative, and their relative performances depended on full-sib group sizes and sire numbers. Increasing the number of markers with low gene diversity (H(e) < or = 0.68) yielded only slow improvement of the results, but all 3 methods performed well with 5-7 markers of H(e) = 0.84. We emphasize the importance of high marker polymorphism for inferring parent numbers and individual parent contributions, as well as for the detection of monogamous reproduction.
Asunto(s)
Padre , Marcadores Genéticos , Madres , Progenie de Nacimiento Múltiple/genética , Polimorfismo Genético , Animales , Simulación por Computador , Femenino , Marcadores Genéticos/fisiología , Genotipo , Funciones de Verosimilitud , Masculino , Apareamiento , Conducta Sexual Animal/fisiologíaAsunto(s)
Progenie de Nacimiento Múltiple , Embarazo Múltiple , Lactancia Materna , Niño , Preescolar , Femenino , Humanos , Lactante , Cuidado del Lactante/métodos , Recién Nacido , Masculino , Progenie de Nacimiento Múltiple/genética , Progenie de Nacimiento Múltiple/estadística & datos numéricos , Obstetricia/métodos , Pediatría/métodos , Embarazo , Embarazo Múltiple/genética , Embarazo Múltiple/estadística & datos numéricos , Atención Prenatal/métodos , Estados Unidos/epidemiologíaRESUMEN
Over the last 15 years, neonatal morbidity and mortality has changed little for very low birth weight babies despite significant technological and therapeutic advances. Bronchopulmonary dysplasia (BPD) continues to be a major problem despite antenatal steroid use, surfactant replacement therapy, gentle noninvasive ventilation techniques, permissive hypercarbia, and judicious use of oxygen. Current evidence supports multiple contributing factors. Prematurity is the cardinal factor; others include pulmonary baro/volutrauma, hyperoxia, and inflammation. BPD is an end product of pulmonary inflammatory response and lung repair with impaired alveolarization and vascularization in response to lung injury. These sequences involve multiple morphoregulatory molecules, which have a range of activities largely determined by genetic variability. A clearer understanding of genetic susceptibility for BPD has recently emerged. Twin studies have shown that the BPD status of one twin, even after correcting for contributing factors, is a highly significant predictor of BPD in the second twin. After controlling for covariates, genetic factors account for 53% (P = 0.004, 95% CI = 16%-89%) of the variance in liability for BPD. Incremental improvements will likely depend on identification of these genetic components for targeting specific therapies.
Asunto(s)
Displasia Broncopulmonar/genética , Enzimas/genética , Humanos , Recién Nacido , Recien Nacido Prematuro , Recién Nacido de muy Bajo Peso , Progenie de Nacimiento Múltiple/genética , Polimorfismo de Nucleótido Simple , Proteínas/genéticaRESUMEN
Bonnier's equation is used to mathematically estimate the frequency of monozygotic (MZ) twinning in epidemiologic studies of twinning in dairy cattle; however, no empirical determination of MZ twinning has been reported in the literature. Our objectives were to empirically determine the frequency of MZ twinning in lactating Holstein cows and to compare this result with published estimates predicted using Bonnier's equation. Ear biopsies were collected from 107 sets of Holstein twins from six Wisconsin dairies resulting in 40 opposite-sex twins, 29 same-sex male twins, and 38 same-sex female twins. To empirically determine the frequency of MZ twinning, DNA extracted from ear biopsies collected from the 67 same-sex twins was PCR amplified using primers for a minimum of 5 polymorphic microsatellite DNA markers. Opposite-sex twins were classified as dizygotic (DZ) as well as same-sex twins differing in at least one microsatellite DNA marker. Same-sex twins were classified as MZ when all genotypes for a minimum of five markers were identical. Of the 67 same-sex twins, 62 were classified as DZ and 5 MZ resulting in a MZ twinning frequency of 7.5% of same-sex twins and 4.7% of all twins. The estimated frequency of MZ twinning in this population of twin calves using Bonnier's equation was 39.5% of same-sex twins and 24.7% of all twins. We concluded that MZ twinning occurred infrequently in Holstein cattle and perhaps less frequently than that reported in studies using Bonnier's equation to estimate MZ twinning.
Asunto(s)
Bovinos , Matemática , Progenie de Nacimiento Múltiple/genética , Progenie de Nacimiento Múltiple/estadística & datos numéricos , Gemelos Monocigóticos/genética , Animales , Bovinos/genética , Bovinos/fisiología , Femenino , Embarazo , Estaciones del Año , Razón de Masculinidad , Gemelos Dicigóticos/genéticaRESUMEN
The incidence of multiple births is rising in many countries including the U.K., mainly as a result of treatment for infertility. Parents of twins, triplets or more require specific information, advice and support at all stages of parenting from diagnosis of a multiple pregnancy onwards. Specialist midwives have an important role to play in this, as do voluntary organisations such as the Multiple Births Foundation. The first part of this two-part article provides an update of some current thinking on multiple births, including twin-twin transfusion syndrome. Part two will provide information about the needs of families with a multiple birth in the early years.
Asunto(s)
Progenie de Nacimiento Múltiple , Atención Posnatal/organización & administración , Atención Prenatal/organización & administración , Femenino , Transfusión Feto-Fetal/etiología , Humanos , Incidencia , Recién Nacido , Infertilidad/terapia , Servicios de Información , Progenie de Nacimiento Múltiple/clasificación , Progenie de Nacimiento Múltiple/genética , Progenie de Nacimiento Múltiple/estadística & datos numéricos , Enfermeras Obstetrices/organización & administración , Rol de la Enfermera , Trabajo de Parto Prematuro/etiología , Padres/educación , Padres/psicología , Polihidramnios/etiología , Hemorragia Posparto/etiología , Preeclampsia/etiología , Embarazo , Factores de Riesgo , Revelación de la Verdad , Reino Unido/epidemiologíaRESUMEN
PURPOSE: The concordance of strabismic phenotypes was examined in monozygotic versus multizygotic twins and other multiple births to study the role of genetic background in different types of commitant strabismus. METHODS: Medical charts of 45 consecutive pairs of twins (16 monozygotic and 18 dizygotic twins, and 11 with unknown zygosity), 3 sets of triplets (one monozygotic and 2 trizygotic triplets), and one set of quadruzygotic quadruplets examined at 6 institutions between 1973 and 1999 were reviewed retrospectively. The concordance was defined as both or all members having either esotropia or exotropia in common. RESULTS: The concordance of strabismic phenotypes was noted in 33 of 49 pairs or sets (67.3%): 14 of 17 monozygotic twins or triplets (82.4%), 10 of 21 multizygotic twins, triplets, or quadruplets (47.6%), and 9 of 11 twins with unknown zygosity (81.8%). The concordance rate was significantly higher in monozygosity than in multizygosity (P =.043, Fisher exact probability test). The predominant concordant phenotypes in monozygosity were accommodative esotropia and intermittent exotropia. CONCLUSION: A high concordance rate of strabismic phenotypes, predominantly of accommodative esotropia and intermittent exotropia in monozygosity, suggests the genetic background for these types of strabismus.
Asunto(s)
Enfermedades en Gemelos/genética , Cuádruples/genética , Estrabismo/genética , Trillizos/genética , Gemelos Dicigóticos/genética , Gemelos Monocigóticos/genética , Femenino , Humanos , Masculino , Progenie de Nacimiento Múltiple/genética , Fenotipo , Estudios RetrospectivosRESUMEN
This paper describes the Pittsburgh Registry of Infant Multiplets (PRIM; Pittsburgh, Pennsylvania), the results of pilot research conducted in this registry, and the plans for future studies. The main focus of the registry is on psychological development and the risk for behavioral disorders. Particularly, characteristics associated with antisociality and the risk for substance use disorders (e.g., aggressivity, hyperactivity/impulsivity), as well as language development and other traits (e.g., dental health) are among the research targets.
Asunto(s)
Trastornos de la Conducta Infantil/genética , Trastornos de la Conducta Infantil/psicología , Enfermedades en Gemelos/genética , Trastornos del Desarrollo del Lenguaje/genética , Trastornos del Desarrollo del Lenguaje/psicología , Progenie de Nacimiento Múltiple , Sistema de Registros , Trastornos Relacionados con Sustancias/genética , Trastornos Relacionados con Sustancias/psicología , Población Urbana , Trastornos de la Conducta Infantil/epidemiología , Enfermedades en Gemelos/epidemiología , Humanos , Lactante , Trastornos del Desarrollo del Lenguaje/epidemiología , Progenie de Nacimiento Múltiple/genética , Progenie de Nacimiento Múltiple/psicología , Progenie de Nacimiento Múltiple/estadística & datos numéricos , Pennsylvania/epidemiología , Proyectos Piloto , Estudios Prospectivos , Sistema de Registros/estadística & datos numéricos , Factores de Riesgo , Trastornos Relacionados con Sustancias/epidemiologíaRESUMEN
The recurrence risk of a trait in a relative of type R is the probability that an individual who is in relationship of type R to an affected proband has the trait. It is intuitively clear that closer relationships lead to higher recurrence risks. However, no exact analysis of this phenomenon has been presented for multilocus traits. We prove a theorem that shows how recurrence risks are influenced by the degree of closeness of the relationship R. For example, our theorem implies that sibling risk is always higher than offspring risk. The loci influencing the trait are assumed to be autosomal and unlinked, but arbitrary epistasis between the loci is allowed. We give a detailed proof of the theorem by using stochastic matrices. A shorter proof based on the additive and dominance genetic variances is also sketched. Additionally, we also give some empirical results and discuss generalizations of the theorem.