Demographic studies in a Brazilian population of Arabian origin

Abstract

Marital distance, exogamy, inbreeding, admixture, and fertility were studied in 513 families of mixed and unmixed Arabian origin living in São José do Rio Preto, Brazil. The 212 unmixed Arabian families were divided into two subgroups: 83 couples married before migration and 129 couples married after migration. The exogamy index and marital distance were significantly higher for the couples married after migration, and the coefficients of inbreeding for both autosomal and sex‐linked genes were also higher for this subgroup. Admixture was studied in 301 families, most of which were comprised of an Arabian man married to a non‐Arabian woman. The frequency of mixed marriages has increased in recent years. The unmixed Arabian group has a significantly higher fertility, but it seems to be dependent upon cultural changes over the years.     

Genetic epidemiology of hereditary tyrosinemia in Quebec and in Saguenay-Lac-St-Jean.

Hereditary tyrosinemia type I is an autosomal recessive disorder that was recognized in Saguenay-Lac-St-Jean (SLSJ) (Quebec) in 1967. Ninety-eight tyrosinemic children, including some of the 113 children born in the SLSJ region, have been screened by the Quebec Network of Genetic Medicine in the whole province since 1970. The geographical distribution of the 98 children screened showed the majority of them to have been born in the northeastern part of Quebec. The prevalence at birth was estimated at 1/1,846 live borns, and the carrier rate was estimated at 1/20 inhabitants in the SLSJ region. Three control groups matched to the tyrosinemic obligate-carrier couples were generated using the population register of the SLSJ region kept at SOREP. The mean coefficient of inbreeding was only slightly elevated in the tyrosinemic group compared with the control groups and was due to remote consanguinity. The mean kinship coefficient was 2.3 times higher in the tyrosinemic group than in the control groups. In the SLSJ region the places of origin of the tyrosinemic children and their parents did not show a clustered nonuniform distribution. Endogamy was not found to be higher in the tyrosinemic group than in the control groups. All these results support both the hypothesis of a founder effect for tyrosinemia and a high gene frequency in northeastern Quebec.     

Household extension and reproductive behaviour in Taiwan

The inflence of household type on reproductive behavior is examined for a national probability sample of Taiwanese women. Data were derived from a 1980 national household survey of the labor force in Taiwan, focusing on 10,624 couples. Reproductive variables include measures of current and prospective fertility as well as cumulative fertility. In spite of remarkable social and economic development over the past 3 decades, extended families are still widely found in Taiwan. Women in extended households have only slightly higher fertility preferences and current fertility than women in nuclear families once marital duration is controlled. Although women in extended households marry earlier and receive more family help with child care than women in nuclear families, such factors are no longer considered sufficient to produce major differentials in reproductive behavior. Residence and husband's class of work are the strongest correlates of whether a household is currently extended or nuclear. In general, the husband's characteristics are more strongly related to family type than the wife's. Findings suggest that preferences for smaller families and low fertility need not await a transformation to a nuclear family structue.     

The human fumarylacetoacetase gene: characterisation of restriction fragment length polymorphisms and identification of haplotypes in tyrosinemia type 1 and pseudodeficiency

Summary Deficiency of human fumarylacetoacetase (FAH) activity results in hereditary tyrosinemia type I. Using the restriction enzymes BglII, KpnI and StuI and a 1.3-kb cDNA probe for the FAH gene, we have found 6 restriction fragment length polymorphisms (RFLPs). These RFLPs were utilised in 3 tyrosinemia families in which one or both parents are carriers of both a tyrosinemia and a pseudodeficiency gene for FAH. Full information was obtained in two of these families. The polymorphisms identified 6 haplotypes. The haplotype distribution was significantly different in 32 unrelated tyrosinemia patients compared with a reference population of 100 individuals. The combined polymorphism information content was 0.77.     

Voluntary sterilization in Flanders

From 1966 to 1990 there was a marked rise in the use of voluntary sterilization in Flanders, followed by a fall in women under the age of 40. In the last three decades a remarkable change has occurred in the choice between male and female sterilization. Compared with many other European countries, sterilization of men and women is widely practised in Flanders. In 1996 40% of 40- to 44-year-old women underwent voluntarily sterilization or had voluntarily sterilized partners. Additionally, another 9% of these women were sterilized for medical reasons. Voluntarily sterilized couples are on average older than non-sterilized couples, and, obviously, consider their families to be complete. For couples with a complete family, parity is the most important predictor in the choice between sterilization and non-sterilization. Regularly practising Catholics undergo sterilization least. Also, highly educated couples are less likely to have a sterilization. Couples who ever experienced a contraceptive failure choose sterilization more. Voluntary sterilization has no substantial effect on the fertility of the population since the effect on the prevented numbers of both wanted and unwanted births appears to be small. However, if voluntary sterilization did not occur, differences in fertility within the population would probably increase. It is presumed that the popularity of voluntary sterilization in Flanders has passed its peak and that its use will decline in the near future.     

A test of the heterozygote-advantage hypothesis in cystic fibrosis carriers.

We report a test of the hypothesis that the high frequency of cystic fibrosis (CF) in Caucasian populations is due to a fertility advantage in CF carriers. One hundred forty-three grandparent couples of Utah CF cases were compared with 20 replicate sets of matched control couples drawn from the Utah Genealogical Database. Ascertainment correction, which has not been applied in previous studies of CF carrier fertility, was applied to these data. Before ascertainment correction was applied, CF carriers appeared to manifest a significant fertility advantage over controls. After the correction formula was applied, this difference disappeared. Carriers and controls were also compared in terms of the length of intervals between births. Again, no significant differences were found. It was concluded that fertility differences are unlikely to account for the observed Caucasian CF gene frequency. Other mechanisms, particularly a past selective event or random genetic drift, are more likely to be responsible.     

The impact of the stopping rule on sex ratio of last births in Vietnam

This study examines the hypothesis that the stopping rule - a traditional postnatal sex selection method where couples decide to cease childbearing once they bear a son - plays a role in high sex ratio of last births (SRLB). The study develops a theoretical framework to demonstrate the operation of the stopping rule in a context of son preference. This framework was used to demonstrate the impact of the stopping rule on the SRLB in Vietnam, using data from the Population Change Survey 2006. The SRLB of Vietnam was high at the level of 130 in the period 1970-2006, and particularly in the period 1986-1995, when sex-selective abortion was not available. Women were 21% more likely to stop childbearing after a male birth compared with a female birth. The SRLB was highest at parity 2 (138.7), particularly in rural areas (153.5), and extremely high (181.9) when the previous birth was female. Given the declining fertility, the stopping rule has a potential synergistic effect with sex-selective abortion to accentuate a trend of one-son families in the population.     

Effect of famine on fertility in a rural area of Bangladesh

Data on household socioeconomic status collected in the 1974 census and registration data on births, deaths, and migrations for the 1974-77 period from the Demographic Surveillance System of the International Centre for Diarrheal Disease Research, Bangladesh, were used to investigate the effects of the 1974-75 famine on differential fertility in a rural population of Bangladesh. Occupation of household head was used as a measure of socioeconomic status. Overall, fertility declined by 34% over the 1975-76 period and increased by 17% in 1976-77 from the 1974-75 figure. Significantly lower fertility was observed in 1975-76, irrespective of socioeconomic status, but the lower socioeconomic groups were affected more than the higher groups. Post-famine fertility was significantly higher only in the 2 middle occupation categories. The age-specific fertility rates suggest that the famine affected all age groups. The post-famine fertility was higher than that of 1974-75 in all but those aged below 20. At age 40 and over the recovery was slight. Husband-wife separation showed an increase during the famine and particularly among the lower socioeconomic groups. The males of the lower socioeconomic households migrated to other regions to obtain food for the family, thus affecting frequency of coitus. The decline in fertility may be due to several factors: deferred marriage; increase in divorces and husband-wife separations; high fetal wastage; voluntary fertility control through contraception, abstention, or induced abortion; and infecundability. An indirect measure of marriage rate indicated that fewer couples entered into marriage in 1974-75, particularly in the lower socioeconomic groups. Both the higher and lower socioeconomic groups were affected by the famine but the precise mechanisms were not the same. At this stage, it is not feasible to estimate the contribution of each factor to the fertility decline. The lower socioeconomic groups were more affected by husband-wife separations and deferred marriages; the higher socioeconomic groups were affected by mental stress and anxiety.     

PTC tasting and group membership

Abstract

Child mortality experience may affect subsequent fertility of couples by exerting the so‐called “physiological” and/or “replacement” responses. The influence of either effect should become apparent upon an examination of individual reproductive histories. The impact of infant and early childhood mortality on subsequent reproductive behavior of couples is analyzed for the presence and intensity of these effects. Historical data are derived from 1,261 families in two communities in western Massachusetts. Relationships of intervals between successive confinements, and parity progression ratios, according to the fate of previous births, are examined. While forms of family limitation have been employed by the study population, indicating that the capacity for replacement existed, the data do not reveal any significant attempt at child replacement.     

Grandmaternal age in children with Down syndrome in St. Petersburg

Advanced maternal age is a well-established factor of DS occurrence. However the majority of DS cases are born to young couples. Some studies suggested that the risk for Down syndrome may be related to an aging grandmother. We obtained data on grandmaternal ages in 243 families of DS and 330 families of healthy children born in 1990-1999. The data were analyzed according to two categories of maternal ages, <30 yr and > or =30 yr. We did not find systematic differences in grandparental age distribution between the studied groups. Specifically, in 102 young couples with DS, medians for both maternal and paternal grandmother's age appeared to be equal (26 yr). Similar figures were observed in 284 young controls (27 yr). There was no difference in age distribution between 141 older couples with DS and 104 control couples. Therefore we failed to support the suggestion that advanced age of the DS grandmother is responsible for meiotic disturbance in her daughter. Neither the hypothesis suggesting a significant contribution of parentally transmitted trisomy 21 to DS population rate has been confirmed.     

The Caenorhabditis elegans K10C2.4 gene encodes a member of the fumarylacetoacetate hydrolase family: a Caenorhabditis elegans model of type I tyrosinemia

In eukaryotes and many bacteria, tyrosine is degraded to produce energy via a five-step tyrosine degradation pathway. Mutations affecting the tyrosine degradation pathway are also of medical importance as mutations affecting enzymes in the pathway are responsible for type I, type II, and type III tyrosinemia. The most severe of these is type I tyrosinemia, which is caused by mutations affecting the last enzyme in the pathway, fumarylacetoacetate hydrolase (FAH). So far, tyrosine degradation in the nematode Caenorhabditis elegans has not been studied; however, genes predicted to encode enzymes in this pathway have been identified in several microarray, proteomic, and RNA interference (RNAi) screens as perhaps being involved in aging and the control of protein folding. We sought to identify and characterize the genes in the worm tyrosine degradation pathway as an initial step in understanding these findings. Here we describe the characterization of the K10C2.4, which encodes a homolog of FAH. RNAi directed against K10C2.4 produces a lethal phenotype consisting of death in young adulthood, extensive damage to the intestine, impaired fertility, and activation of oxidative stress and endoplasmic stress response pathways. This phenotype is due to alterations in tyrosine metabolism as increases in dietary tyrosine enhance it, and inhibition of upstream enzymes in tyrosine degradation with RNAi or genetic mutations reduces the phenotype. We also use our model to identify genes that suppress the damage produced by K10C2.4 RNAi in a pilot genetic screen. Our results establish worms as a model for the study of type I tyrosinemia.     

Preference for children and subsequent fertility in Matlab: does wife-husband agreement matter?

This study examines wife-husband preference for children and subsequent fertility for a period of 5 years in the treatment and comparison areas of Matlab, Bangladesh. The two data sets used were: the In-depth Survey (1984) and the Demographic Surveillance System (1984-89). In the case of wives' preferences for children, subsequent childbearing was 13.8% higher than desired in the treatment area and 44.7% higher than desired in the comparison area. After controlling for all variables in the model, the likelihood of giving birth was 1.78 times higher for wives who wanted no more children, but whose husbands did want more, compared with couples where neither husband nor wife wanted more children. For couples where the wife wanted more, but the husband did not want more children, the likelihood of giving birth was 0.63 times that of couples where both the husband and wife wanted more children. This finding suggests that to enhance the decline in fertility in these two areas of Matlab, it will be necessary to motivate both wives and husbands to cease childbearing.     

A test of the child replacement hypothesis: nineteenth century Massachusetts

Child mortality experiences may affect subsequent fertility of couples by exerting a physiological effect, influencing length of birth, interval, or a replacement effect, in which couples continue to procreate in an attempt to reach a desired number of surviving offspring. Where biological constraints are potentially important, however, it may be difficult to distinguish between purely physiological and purely behavioral components of the process regulating production. Natural spacing of births and onset of sterility may be affected by health and diet and prior childbearing and breastfeeding practices. Biological pressures can, in turn, be infuenced behaviorally both by social custom and individual choice. Studies of 126 families in 19th century Massachusetts show that reduction in infant mortality is not a prerequisite for onset of family limitation. Results for the study population did not exhibit a relationship between parity progression ratios and the experience of child mortality, consisten with the child replacement hypothesis. 1 factor involved may be the parent's expectations of more than the desired number of children because of imperfect contraceptive technology at the time. Preference for the sex of children also may weaken overall replacement effect, since the death of a child of "undesired" sex will not be replaced. The cohort age-specific fertility patterns indicate that a reduction in overall fertility level in the communities studied was parity-dependent and directed at stopping childbearing at some given range of family size. At any rate, parents are not passive participants in a natural regime of births and deaths. While child replacement may be present in some societies, it is relatively inefficient and perhaps infrequent.     

Family size and children's education in Matlab, Bangladesh

This study examines the relationship between family size and children's education in Bangladesh for two periods - 1982 with high fertility and 1996 with low fertility - using data from the Matlab Health and Demographic Surveillance System of the ICDDR,B: Centre for Health and Population Research. Children aged 8-17 years (27,448 in 1982 and 32,635 in 1996) were selected from households where the mother was aged 30-49 years and the father was the head of household. Children's education was measured in terms of completed years of schooling: at least class 1 (among 8-17 year olds), at least class 5 (among 12-17 year olds) and at least class 7 (among 15-17 year olds). After controlling for all variables in the multivariate analyses, level of children's education was not found to be associated with family size during the high fertility period. The family size-education relationship became negative during the low fertility period. In both periods children of educated mothers from wealthier households and those who lived close to primary/high schools had more education, but this socioeconomic difference reduced substantially over time. Boys had more education than girls during the high fertility period but this difference disappeared during the low fertility period. As birth rates fall and the proportion of children from small families increases an increase in children's education is to be expected.     

Correlation of intergenerational family sizes suggests a genetic component of reproductive fitness

Reproductive fitness is a complex phenotype that is a direct measure of Darwinian selection. Estimation of the genetic contribution to this phenotype in human populations is confounded by within-family correlations of sociocultural, economic, and other nongenetic factors that influence family sizes. Here, we report an intergenerational correlation in reproductive success in the Hutterites, a human population that is relatively homogeneous with respect to sociocultural factors that influence fertility. We introduce an estimator of this correlation that takes into account the presence of multiple parent-offspring pairs from the same nuclear family. Statistical significance of the estimated correlation is assessed by a permutation test that maintains the overall structure of the pedigree. Further, temporal trends in fertility within this population are accounted for. Applying these methods to the S-Leut Hutterites yields a correlation in effective family size of 0.29 between couples and their sons and 0.18 between couples and their daughters, with empirical P<1x10-6 and P=.0041, respectively. Similar results were obtained for completed families (0.31 between couples and their sons and 0.23 between couples and their daughters; empirical P<1x10-6 and P=.00059, respectively). We interpret these results as indicating a significant genetic component to reproductive fitness in the Hutterites.     

Variations in value orientations and fertility behavior

A test of a hypothesis regarding attitudes toward nature, time, familial relations, activity, and sex was undertaken. The hypothesis was: wives who have a modern orientation to any 1 of these items will expect a smaller number of children, will have smaller proportion of unplanned births, and will have lower fertility than wives who have traditional orientation. Data on which the study was based were obtained from a project on family formation and values conducted in Lexington, Kentucky, during the spring of 1968. Of the 403 eligible respondents (resident white nonfarm females who had a legitimate live birth in Fayette County, Kentucky during the period January 1, 1967, to December 31, 1967, 275 were interviewed. Results indicated 3 patterns: 1) sex orientation is not related to fertility expectations, or, at best, is weakly associated; 2) the sex orientation scale does not discriminate birth control effectiveness as predicted; and 3) sex orientation is associated with actual fertility, but in the opposite direction from that hypothesized. Women who have a modern orientation to sex have larger families than women with a traditional orientation, even though the former are more effective family planners. Results indicated that time orientation is not directly related to fertility behavior while the activity orientation is related to fertility behavior but in the opposite direction from that hypothesized. The nature and relational orientations provided some support for the hypothesized relation between modern orientations and low fertility behavior.     

Case series of fertility treatment in HIV-discordant couples (male positive, female negative): the Ontario experience

The success of combination antiretroviral therapies for the treatment of human immunodeficiency virus (HIV) has resulted in prolonged life expectancy (over 40 years from diagnosis) and an improved quality of life for people living with HIV. The risk of vertical HIV transmission during pregnancy has been reduced to less than 1%. As a result of these breakthroughs and as many of these individuals are of reproductive age, fertility issues are becoming increasingly important for this population. One population in which conception planning and reduction of horizontal HIV transmission warrants further research is HIV-discordant couples where the male partner is HIV-positive and the female partner is HIV-negative. Sperm washing is a technique carried out in a fertility clinic that separates HIV from the seminal fluid. Although sperm washing followed by intrauterine insemination significantly reduces the risk of horizontal HIV transmission, there has been limited access to the procedure in North America. Furthermore, little is known about the conception decision-making experiences of HIV-discordant couples who might benefit from sperm washing. Chart reviews and semi-structured interviews were completed with 12 HIV-discordant couples in Ontario, Canada. Couples were recruited through HIV clinics and one fertility clinic that offered sperm washing. Participants identified a number of factors that affected their decision-making around pregnancy planning. Access to sperm washing and other fertility services was an issue (cost, travel and few clinics). Participants identified a lack of information on the procedure (availability, safety). Sources of support (social networks, healthcare providers) were unevenly distributed, especially among those who did not disclose their HIV status to friends and family. Finally, the stigmatisation of HIV continues to have a negative affect on HIV-discordant couples and their intentions to conceive. Access to sperm washing and fertility service is significantly limited for this population and is accompanied with a number of challenges.     

Population genetic study of differential fertility in man (illustrated by habitual abortion). IV. Distribution of blood groups and frequency of incompatible marriages

Hereditary variation of 5 immunological systems coded by 8 loci was compared in 148 couples and 100 women with repeated spontaneous abortions in anamnesis (experimental group) and 141 couples and 100 women with normal fertility (control group). Marked differences in distributions of genotypes and frequencies of 3 systems (MNSs, Rhesus, Duffy) and frequency of AB0-incompatible couples were found between control and experimental groups. An average value of observed heterozygosity in experimental group was lower, as compared to the expected value. Possible influence of immunological factors on recurrent fetal wastage is discussed.     

Canadian fertility trends in perspective

This paper examines the broad movements of Canadian period and cohort fertility over the past 100 years, and compares them with corresponding trends in the US and other industrialized countries. The main movement in Canada was a decline in fertility extending from the 19th century to the present, interrupted in the 1940s and 1950s by a baby boom. Between 1871 and 1937 the total fertility rate (TFR) fell at about an average of 1.4% annually. The rate of fall in the US was similar, with the result that in the late 1930s the Canadian TFR was about 20% that of the US. The fertility boom that followed was steeper in the US than in Canada, and in the downswing that later followed, the rate of decline was similar in the 2 countries (3.4-4% annual average). But, the decline continued longer-- indeed still continues--in Canada, whereas the TFR in the US reached its lowest point in 1976. Moreover, the recent decline in fertility has been more severe in Canada than in almost any other industrialized country. The TFR relates to fertility in a single year and is highly sensitive to short-term changes in the timing of births. For the purposes of understanding and explaining long-term trends in fertility, the completed fertility rate (CFR) is a better index because it measures the ultimate family size of cohorts. Cohort fertility can be seen to fluctuate much less than does period fertility. In both the US and Canada, the peak cohorts, born in the early 1930s, had roughly the same completed fertility, and later cohorts continued to remain closely in step as the CFR fell sharply. In Canada the fall continues, though at a reduced rate, in the latest cohorts for which there is information. Apart from differences in amplitude, the dates of turning points and the shapes of the TFR and CFR curves of Canadian fertility are fairly similar. The long decline in cohort fertility is largely explained by the decrease in the proportions of families of 6 or more children. During the baby boom, for Catholics and non-Catholics alike, the proportion of ever-married women remaining childless fell by about 40%, the proportion having 2 children changed little, and the proportions having 3,4 and 5 children tended to increase substantially. The crucial difference between the 2 groups was in the proportions of women having 6 or more children. For non-Catholics, the proportion fell by over 4% from a high level. For non-Catholics, on the other hand, the proportion rose somewhat, though even after the rise, it was barely more than 1/2 the level to which the Catholic proportion had declined. Among Catholics, the effect of the massive decline in the proportion of women having 6 or more children was to swamp the effects of the increase in the proportions of women having 3, 4 and 5 children. The net effect was that fertility declined. Among non-Catholics, however, the comparable increases in the proportions of families of 3, 4 and 5 children, were not offset by any fall in the proportion of larger families, with the result that a baby boom occurred.     

Assessment of fertility and infertility in boron-exposed Turkish subpopulations: 3. Evaluation of fertility among sibs and in "borate families"

As a part of a work to reveal the health effects of boron and its compounds, fertility and infertility states of sibs of probands, contacted and interviewed in the field, and of their spouses were given. The purposes were to prevent duplications seemingly inevitable in a relatively small community with prevailing consanguinity while analyzing marriages over respective generations and to reveal if there occurred an aggregation of infertile couples. Any family without offspring after about the second year of marriage was considered primary infertile as adopted throughout the study and such families were ascertained through the individual pedigree charts set up according to the instructions of the proband, he (she) himself (herself) being excluded. The rates of childless families of this type were 0.0–3.4% among male and 0.9–3.8% among female sibs of the participant, and 2.3–10.0% among male and 0.0–5.6% among female sibs of his (her) spouse with averages of 2.3% of 1589, 2.6% of 1589, 4.0% of 1314, and 3.3% of 1436 instances, respectively. The differences were insignificant and the rates were not different from those concerning probands themselves and that of a comparable segment of the Turkish population. “Borate families/kindreds” with two or more members engaged in the borate industry were also assessed in order to detect if there was a significant clustering of infertiles within the kindred. Although it was difficult to compare with a matched group, few couples were examples of familial concentration of infertility. These results provided further support that boron exposure does not affect human reproduction primarily and most probably secondarily. This work was partly presented to the 10th International Symposium on Trace Elements in Man and in Animal (TEMA-10), Evian, France, May 2–7, 1999.