Molecular evidence for true isochromosome 21q

Summary In one family a duplicated 21q was shown to be a true isochromosome, which segregates from mosaic mother to non-mosaic child with full Down syndrome phenotype. Densitometric analysis of Southern blots, using probe pPW228C for the distal long arm of chromosome 21, indicated that the 21q duplication contains two copies of the allele detected by the probe. Maternal mosaic karyotype of 45,XX,-21/46,XX/46, XX,-21,+21i(21q) also suggested transverse mitotic centromere division as the origin of the 21q isochromosomes. Morphologic analysis of chromosome heteromorphisms strengthened this interpretation because the free 21 missing in the cell line with 45 chromosomes was also missing in cells with the isochromosome. In a second family the cytogenetic data also suggested transmission of an i(21q) from mosaic mother to nonmosaic Down syndrome child but molecular evidence did not prove identity of alleles in the duplicated chromosome 21.     

Correlation between the cariogenic response in biofilms generated from saliva of mother/child pairs

This study aimed to correlate the cariogenic responsiveness of biofilms generated from the saliva of mothers and children. The mother–child pairs were classified according to the children’s caries levels: caries-free, early childhood caries (ECC) or severe ECC. Microcosm biofilms were grown on enamel discs for 10?days. Factors under evaluation were caries experience levels, inoculum source (mothers and children) and growth conditions including cariogenic challenge (growth medium provided with and without sucrose) and no cariogenic challenge (growth medium sucrose-free). Statistical analysis was performed with ANOVA and Tukey’s test, and the Spearman correlation test. Regular sucrose exposure resulted in a higher surface hardness change (%SHC). The correlation between biofilms formed from saliva of mother–child pairs was significant regarding pH, total aciduric microorganisms and lactobacilli counts under cariogenic challenge. Biofilm growth originating from mother–child pairs under regular sucrose exposure promoted the same cariogenic response independently of caries experience and the microbiological profile of the donors.     

Atypical segregation of esterase D: Evidence of a rare “silent” allele EsD 0

Summary Electrophoretic study of esterase D in 1027 mother-child pairs showed an atypical segregation of EsD alleles in one pair. The family analysis confirmed the evidence of a silent gene (EsD ⁰), which was observed in child, mother and grandfather. R banding of the metaphasal chromosomes revealed the normal appearance of the No. 13 pair, and no deletion of homologues No. 13 was observed in this family.     

ABO incompatibility and reproductive failure. I. Prenatal selection

An analysis of previous spontaneous abortions and the frequencies of blood-group combinations in mother-child pairs was carried out in 500 gravidae. The rate of previous spontaneous abortions in blood-group-O women whose latest child has blood group B is significantly higher than in all other women. On the other hand, the combination mother B/child AB is rarer than expected, but no increase in the rate of previous spontaneous abortions is obvious among these women. These discrepancies are interpreted as an indication that prenatal selection associated with ABO incompatibility may operate at various stages from fertilization through pregnancy, and that different incompatible combinations may be subject to selection at different stages.     

Detection of male and female fetal DNA in maternal plasma by multiplex fluorescent polymerase chain reaction amplification of short tandem repeats

The purpose of this study was to develop a fluorescent polymerase chain reaction (PCR) assay for the detection of circulating fetal DNA in maternal plasma. Maternal DNA extracted from plasma samples of pregnant women at term and newborn DNA isolated from cord blood were used to genotype 12 mother/child pairs at nine different polymorphic short tandem repeat loci. Multiplex fluorescent PCR was used to detect fetus-specific alleles in the corresponding maternal plasma samples. Fetus-specific alleles were found in all maternal plasma samples studied. Using these polymorphic repeat sequences, every mother/child pair was informative in at least four of nine loci. Paternally inherited fetal alleles were detected in 84% of informative short tandem repeats. This approach may have implications for non-invasive prenatal diagnosis. Compared with other fetal DNA detection systems that use fetus-derived Y sequences to detect only male fetal DNA in maternal plasma, our proposed technique can be applied to both female and male fetuses.     

Genetic analysis of Streptococcus agalactiae strains isolated from neonates and their mothers

Streptococcus agalactiae or group B streptococcus (GBS) is the most common cause of neonatal sepsis and meningitis in neonates. One of the major questions is whether the GBS strains able to cause neonatal invasive disease have peculiar genetic features. A collection of S. agalactiae strains, isolated from cervix, vagina and rectum of 10 mothers and from throat, ear and umbilicus of their newborns was genetically characterized by pulsed-field gel electrophoresis (PFGE). This study demonstrated that the strains isolated from each mother and her child were all genetically identical but that the strains from the 10 mother/child pairs mutually were genetically heterogeneous and 10 different PFGE patterns were found. Although it has been suggested that PFGE would be able to identify virulence traits to direct decisions in antibiotic management, the heterogeneous feature of GBS strains does not support broad application.     

Alpha-1-antitrypsin and transferrin null alleles in the Portuguese population

In a Portuguese family, a null allele was found in the Pi system. An apparent 'exclusion' of the mother was found to be due to the presence of null alleles in mother and child. A transferrin (Tf) null allele was found in a case of disputed paternity. The mother and putative father were heterozygous for Tf null alleles and the child was homozygous (TfQ0) and presented hypotransferrinemia.     

The Selenium Levels of Mothers and Their Neonates Using Hair,Breast Milk,Meconium, and Maternal and Umbilical Cord Blood in Van Basin

The objective of the present study is to calculate linear regressions between a mother and her child with respect to their selenium concentration (ng/g) in the following traits: maternal blood and umbilical cord blood, maternal and child hair, maternal milk and child umbilical cord blood, maternal milk and meconium, maternal blood plasma, and child meconium. The data were collected at Research Hospital of the University of Yüzüncü Yıl from 30 pairs of mothers and their newborn baby. The mean maternal serum Se level in 30 mothers was 68.52 ± 3.57 ng/g and cord plasma level was 119.90 ± 18.08 ng/g. The Se concentration in maternal and neonatal hair was 330.84 ± 39.03 and 1,124.76 ± 186.84 ng/g, respectively. The Se concentration of maternal milk at day 14 after delivery was determined as 68.63 ± 7.78 ng/g (n = 13) and the concentration of Se was 418.90 ± 45.49 ng/g (n = 22) for meconium of neonatal. There was no significant difference between maternal blood and milk Se levels. However, hair Se concentration was significantly higher than milk and maternal blood Se level. For each trait comparison, the average absolute difference in log₁₀-transformed Se concentration was calculated between a mother and her child. The observed average absolute difference was compared with a test distribution of 1,000 resampled bootstrap averages where the number of samples was maintained but the relationship between a mother and her child was randomized among samples (α = 0.05).     

A silent transferrin allele in a Finnish family

In a Finnish family a silent allele was found in the transferrin (Tf) system. As determined by gel electrophoresis and immunoblotting, the Tf type of the father was CD, the mother C, and the child D. The serum Tf concentration in grandmother, mother, and child was less than 50% of normal.     

The Interaction of Child Care and Family Risk in Relation to Child Development at 24 and 36 Months

Family risk factors (psychosocial, socioeconomic, and sociocultural), child care characteristics (quality and hours in care), and the interactions of these variables were examined as predictors of behavior problems, prosocial behavior, and language skills in a longitudinal sample of 943 children (assessed at 24 and 36 months) enrolled in child care as infants. Family risk variables were the strongest predictors of all outcomes. Child care quality was a significant predictor of 36-month caregiver-reported social skills and 36-month language skills. Contrary to expectations, limited evidence was found to suggest child care experiences moderate the negative associations between family risk and child outcomes. Family risk interacted with child care quality in only 1 of the 5 analyses, and did not interact with child care quantity in any of the analyses. One interaction between family risk and child care was significant. Children from minority and single-parent families were rated as less prosocial by their mothers when in low-quality child care.     

Population genetic data on properdin factor B (Bf) in northern Germany.

Properdin factor B phenotypes were determined in 1,112 unrelated individuals and in 151 mother/child combinations from Northern Germany. Gene frequencies were : F = 0.1960, S= 0.7905, F1 = 0.0072, S1 = 0.0063. The data of the mother/child combinations are in full accordance with the postulated gene model.     

Linkage analysis in familial Angelman syndrome.

Familial Angelman syndrome (AS) can result from mutations in chromosome 15q11q13 that, when transmitted from father to child, result in no phenotypic abnormality but, when transmitted from mother to child, cause AS. These mutations therefore behave neither as dominant nor as recessive mutations but, rather, show an imprinted mode of inheritance. We have analyzed two sibling pairs with AS and a larger family with four AS offspring of three sisters with several recently described microsatellite polymorphisms in the AS region. AS siblings inherited the same maternal alleles at the GABRB3 and GABRA5 loci, and the unaffected siblings of AS individuals inherited the other maternal alleles at these loci. In one of the AS sibling pairs, analysis of a recombination event indicates that the mutation responsible for AS is distal to locus D15S63. This result is consistent with a previously described imprinted submicroscopic deletion causing AS, a deletion that includes loci D15S10, D15S113, and GABRB3, all distal to D15S63. The analysis of the larger AS family provides the first clear demonstration of a new mutation in nondeletion AS. Analysis of linkage of AS to GABRB3 in these three families, on the assumption of imprinted inheritance (i.e., penetrance of an AS mutation is 1 if transmitted maternally and is 0 if transmitted paternally), indicates a maximum lod score of 3.52 at theta = 0.     

Formal and population genetics of F13A and FUCA1 polymorphisms in northern Portugal

Subunit A of coagulation factor XIII (F13A) and alpha-L-fucosidase (FUCA1) polymorphisms were studied in unrelated healthy blood donors from northern Portugal. The gene frequencies found were: F13A*2 = 0.241 and FUCA1*2 = 0.308. Segregation analysis in mother/child pairs and nuclear families confirmed the previously described modes of inheritance for F13A and FUCA1, and no evidence for silent genes was found.     

Double heterozygous Hb O Arab/beta-thalassemia in a Tunisian child

A study realized in a Tunisian family of 22 persons has revealed a double heterozygoty Hb O Arab/beta(0) thalassemia in a child of 16 years old. The father of this child presents a beta thalassemia and his mother is haemoglobine O Arab homozygote.     

Individual human hair mitochondrial DNA control region heteroplasmy proportions in mothers and children

Due to maternal inheritance, lack of recombination and a high polymorphic density, the mtDNA control region hypervariable (HV) regions are well suited for forensic identification using a maternal relative as the known sample. This analysis can be performed in hair, however, heteroplasmy in this tissue is not rare and can result in an apparent sequence mismatch that complicates this application. There is little data comparing mother and child mtDNA-CR heteroplasmic proportions in hair. In this study, we assayed four hairs per individual in 26 mother-child pairs by TTGE for heteroplasmy across HV1. Single nucleotide heteroplasmy was detected in seven families, and in four families at least two hairs were heteroplasmic. In each of the latter families, sequencing and PCR-RFLP confirmed single nucleotide heteroplasmy in proportions of the variant ranging from < or =10 to > or =90% in the mothers, with far less variability in their children. Sequencing alone would have revealed apparent homoplasmic differences at one nucleotide in these families, possibly resulting in an 'inconclusive' verdict for relatedness of child and mother. However, mother-child heteroplasmic variability did not exceed intra-individual variability in the mothers alone.     

The Bacon Chow study: Genetic analysis of physical growth in assessment of energy–protein malnutrition

Estimates of the prevalence of energy–protein malnutrition almost universally employ physical growth measurements. In this study we focus on this disease and the role of body size of relatives as mediators of responses in individuals to one type of nutrition intervention: supplementation of pregnant and lactating women. In this study, initiated by Dr. Bacon Chow and others in 1967, during gestation of a first infant a mother was untreated, while during the lactation of the first infant and the gestation and lactation of a second infant she was treated with either a calorie supplement or a placebo. Supplement–placebo group differences were sought in sibling and mother–child correlations in growth from birth to 30 months, in order to assess the role of heredity as a mediator of supplement effects. There were 108 pairs of siblings whose mothers had received a high-calorie–high-protein supplement as described above and 105 pairs of siblings whose mothers had received a placebo. Among the latter, sibling correlations for most measurements are statistically significant at birth, and of the same magnitude seen in previous studies (～0.5), while among supplemented siblings, birth correlations are unusually low and often insignificant. The sibling correlations in Rohrer's index (wt/L³) differed the most between groups (p < 0.01). Group differences in the sibling correlation tended to disappear over the first 2.5 years of life. Correlations between mothers and their second children in subscapular skinfold tended to be higher in the supplemented than in the placebo group, birth to 30 months. In both supplement groups mother–second child correlations for body weight were higher than mother–first child correlations, suggesting the occurrence of secular changes in the environment unconnected with the treatment. The results suggest that: (1) genetic analysis of components of anthropometric variation may be a more sensitive method than the more conventional comparison of group means in detecting supplement effects; and (2) infant relative weight (Rohrer index), particularly the addition of subcutaneous fat, may be more affected by maternal supplementation than growth in weight or length alone.     

Parental trisomy 21 mosaicism.

A family with three children with trisomy 21 in which the mother is a phenotypically normal, trisomy 21/normal mosaic was studied. Chromosome 21 fluorescent heteromorphisms were used to document that two of the three number 21's in two of the Down syndrome offspring were of maternal origin. Five cytogenetic surveys in which both parents of a child with trisomy 21 were studied have been reviewed. From these data, it is estimated that 3% of couples producing a child with trisomy 21 can be explained by parental mosaicism. From 17 informative sibships, with one parent mosaic, the segregation ratio was estimated to be 0.43 +/- 0.11.     

Complexities in Research on Fathering: Illustrations from the Tufts Study of Young Fathers

Theory and research suggest that the transition to parenthood is a major life transition, and that adaptation to the parenting role is influenced by a complex set of factors, including the relationship with the child's mother, family of origin, and how the father is situated within sociocultural contexts. The father–]mother relationship is particularly important for men making the transition to fatherhood. This study examined patterns of fathering among young fathers (15–24 years) and investigated how fathers' relationships with the mothers of their young children (infants and toddlers) were related to fathering. In general, higher quality father–mother relationships were related to greater father involvement with children; when mothers were perceived as barriers to involved fathering fathers also had less accurate and adaptive parenting knowledge, attitudes, and behavior. Person-centered analyses revealed quite complex relations between father–mother relationships and father–child interaction. One pattern showed strong positive father–mother relationships associated with a disengaged pattern of father–child interaction, while another pattern showed sensitive and positive father–child engagement in the context of negative or distant father–mother relationships. Four patterns of association between fathering and mother–father relationships were demonstrated. Results highlight the complexity of understanding fathering and family relationships among young fathers.     

AIDS and antibodies to human immunodeficiency virus (HIV) in children and their families: clinical experience at Yale-New Haven Hospital

As of December 1986, we have identified 23 symptomatic children with human immunodeficiency virus (HIV) infection in New Haven. Twelve developed AIDS as manifested by lymphocytic interstitial pneumonitis, Pneumocystis carinii pneumonia (PCP), and/or disseminated mycobacterial infections; seven of them have died. The remainder have milder clinical syndromes, which include failure to thrive, diffuse lymphadenopathy, and parotid swelling. When compared to adults with AIDS, children often have hypergammaglobulinemia and normal numbers of T4 lymphocytes. Intravenous drug abuse by the mother or mother's consort is the risk factor in 87 percent of these children. Two families have now been identified with more than one symptomatic child, but in no family is there evidence of spread from symptomatic children to uninfected siblings. A prospective study was begun to attempt to assess the risk of developing symptomatic HIV infection when a child is born to a mother with antibodies to HIV.