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Evidence of Association of the Ratio Birth Weight/Placental Weight with Genetic Factors Located in the Short Arm of Chromosome 1
No full textIs there a role of erythrocyte acid phosphatase polymorphism in intrauterine development?
No full textIs there a relationship between sex of cystic fibrosis carriers and sex ratio of their offspring?
No full textData on the offspring of 198 aunts and 179 uncles of 100 cystic fibrosis index cases were analyzed. Aunts showed higher average number of liveborn sons than uncles. No significant difference was observed in the number of liveborn female offspring. When the sample was subdivided with respect to family size, the proportion of liveborn sons of aunts appeared higher than that of uncles in all classes. The present observations suggest that a female carrier may have a higher probability of male offspring than a male carrier and that she may be mainly responsible for the sex ratio deviations previously reported in sibships of cystic fibrosis patients
Diabetic pregnancy: evidence of selection on the Rh blood group system.
No full textThe blood glucose levels of pregnant women with insulin-dependent diabetes mellitus and the blood glucose levels of newborns during the first few hours of life show an association with maternal Rh genotype. Distortions of joint maternal-fetal Rh phenotype distribution have also been observed. Because a cluster of genes involved in glycide metabolism is located on the short arm of chromosome 1, the present observations may reflect the action of these genes
Adenosine deaminase polymorphism. Associations at clinical level suggest a role in cell functions and immune reactions.
No full textIt is well known that subjects homozygous for a rare silent allele of ADA may experience a severe combined immunodeficiency. By analogy we have investigated the possible relationship of normal ADA polymorphism with some situations, such as reproductive defects and fetomaternal interactions, in which immunological mechanisms may play an important role. A total of 572 consecutive newborns, 93 consecutive low birthweight infants, 46 couples with unexplained habitual abortion, and 24 couples with unexplained sterility were studied. The proportion of ADA 2-1 phenotype was reduced in couples with reproductive defects. In the sample of consecutive newborns the proportion of ABO incompatible babies was higher among ADA 2-1 than among ADA 1 types. ADA 2-1 phenotype was also associated with a reduction in the variability of gestational length. These associations were much more marked among male than among female babies. The proportion of ADA 2-1 was significantly lower in low birthweight infants than in the consecutively studied infants and normal adults. The present data suggest that biochemical variability resulting from the normal ADA polymorphism may be, at least in part, responsible for the variability of some immunological functions and related physiological variables and pathological conditions. They also provide evidence in favour of a selective advantage of ADA heterozygotes
Serum haptoglobin appearance during neonatal period is associated with acid phosphatase (ACP1) phenotype.
No full textErythrocyte acid phosphatase (ACP1) is a polymorphic enzyme found in many tissues and acts in vivo as a flavin-mononucleotide phosphatase. We have recently observed a relation between this enzyme and length of gestation. The present study shows that the pattern of appearance of serum haptoglobin during the neonatal period is associated with ACP1 phenotype suggesting some important function of this polymorphic enzyme in human development
The genetic component of quantitative perinatal variables. An analysis of relations between erythrocyte acid phosphatase phenotype and birth weight, gestational age and serum bilirubin level in the first days of life.
No full textIntrauterine death: an approach to the analysis of genetic heterogeneity.
No full textA study of survival time of zygotes in utero and the relationship with parental phenotype of a series of genetic polymorphisms was carried out in 41 couples with habitual abortion. Variability of intrauterine survival time was found to be much higher between families than within families suggesting that several genetic entities contribute to the condition clinically defined as habitual abortion. Significant differences of survival time were found in relation to the length of the paternal Y chromosome and to the maternal phenotypes of PGM1 and Ss. These observations are in line with previous data suggesting intrauterine selection in these polymorphisms. Further studies of the timing of intrauterine death in relation to 'normal' genetic polymorphisms may help to clarify the aetiology of spontaneous fetal loss
ABO/secretor genetic complex and susceptibility to asthma in childhood
No full textA positive association has recently been reported in adult subjects between O/nonSecretor phenotype and asthma, To confirm this association, this study investigated the joint ABO/Secretor phenotype in a cohort of 165 asthmatic children, Three-hundred and sixty-two consecutive newborn infants from the same population were also studied as controls. The proportion of O/nonSecretor in asthmatic children was higher than in controls, thus confirming the association found in adults, The association was more marked in males than in females, In males, the pattern of association between the joint ABO/Secretor phenotype and asthma is dependent on the age at on-set of symptoms, Since the oligosaccharide composition of cell membrane and mucosal secretions is controlled by the cooperative interaction of ABO and Secretor genes, and since such composition influences the adhesion of infectious agents, the age pattern could reflect a more general interaction between developmental maturation and oligosaccharide structure concerning their effects on susceptibility to viral and bacterial agents
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