Social mechanisms in the population genetics of Tay‐Sachs and other lethal autosomal recessive diseases: A computer simulation model

McKusick, Kathleen B.; Schach, Stephen R.; Koeslag, J. H.

doi:10.1002/ajmg.1320360211

Cited by 3 publications

(3 citation statements)

References 8 publications

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“…When such mates were not available, the actual mate was chosen among families with the nearest rank. Unlike in McKusick et al (1990), the ranking was not circularized in order to avoid mating between individuals with opposite rankings (an additional set of simulations confirmed that results were not sensitive to this hypothesis, results not shown). This parametric pairing rule allowed us to quantitatively model homogamy for sibship size ; i.e.…”

Section: (I) Simulationsmentioning

confidence: 78%

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Impact of fertility transmission and other sociodemographic factors on reproductive success and coalescent trees

2012

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Summary Fertility transmission (FT) is a phenomenon with a cultural and/or genetic basis, whereby a positive correlation exists between the number of offspring of an individual and that of his/her parents. Theoretical studies using a haploid individual-based model have shown that FT increases the variance and intergenerational correlation in reproductive success and results in an imbalance in the coalescent tree of sampled genes. This phenomenon has been documented in several demographic studies conducted on the correlation in fertility between generations, or through the reconstruction of the genealogical trees of mitochondrial DNA sequences. However, as mtDNA is a single locus, potentially subject to other forces (e.g. natural selection), it is of interest to extend the theory of FT to nuclear loci. We show that because random mating between individuals leads to a mixing of their fertility profiles, FT in these cases will have less influence on the variance and intergenerational correlation of reproductive success. This, in turn, results in less impact on the shape of the coalescent trees. Nevertheless, in the presence of FT, high heterogeneity in reproductive success and homogamy for family size will increase the imbalance in the coalescent tree. Thus, FT should be easier to detect when occurring in conjunction with these other factors. We also show the utility of analysing different kinds of loci (X-linked, Y-linked, mitochondrial and autosomal) to assess whether FT is matrilineal, patrilineal or biparental. Finally, we demonstrate that the shape of the coalescent tree depends upon population size, in contrast to the classical Kingman's model.

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Section: (I) Simulationsmentioning

confidence: 78%

“…We assumed that each individual produced offspring with one partner only (strict monogamy). In each generation, couples were formed either randomly or under a model of homogamy for sibship size adapted from McKusick et al (1990). In this latter case, we first ranked the individuals according to their sibship size.…”

Section: (I) Simulationsmentioning

confidence: 99%

Impact of fertility transmission and other sociodemographic factors on reproductive success and coalescent trees

2012

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“…For example, McKusick et al (32) derived a model based on nonrandom mating. In our model, we used a simple parameter c and restricted the transmission of demographic behavior to ''vertical transmission'' (33).…”

Section: ϫ31mentioning

confidence: 99%

Social transmission of reproductive behavior increases frequency of inherited disorders in a young-expanding population

Austerlitz

Heyer

1998

Proc. Natl. Acad. Sci. U.S.A.

100

104

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The observation of high frequencies of certain inherited disorders in the population of Saguenay-Lac Saint Jean can be explained in terms of the variance and the correlation of effective family size (EFS) from one generation to the next. We have shown this effect by using the branching process approach with real demographic data. When variance of EFS is included in the model, despite its profound effect on mutant allele frequency, any mutant introduced in the population never reaches the known carrier frequencies (between 0.035 and 0.05). It is only when the EFS correlation between generations is introduced into the model that we can explain the rise of the mutant alleles. This correlation is described by a c parameter that ref lects the dependency of children's EFS on their parents' EFS. The c parameter can be considered to ref lect social transmission of demographic behavior. We show that such social transmission dramatically reduces the effective population size. This could explain particular distributions in allele frequencies and unusually high frequency of certain inherited disorders in some human populations.

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Simulation Modeling and Health-care Decision Making

Klein¹,

Dittus²,

Roberts³

et al. 1993

Med Decis Making

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For the past 25 years, simulation modeling has been used to facilitate operational and clinical decision making in health care. Simulation modeling offers the analyst extreme flexibility in modeling, including the capability to characterize complex situations, incorporate time-dependent events, and represent stochastic processes. Historically, computational demands and programming complexity have limited the widespread use of simulation modeling. However, as computational capability has exploded and software has matured to make simulation modeling more widely accessible, the technique has gained recognition and acceptance among health-care analysts.This annotated bibliography was developed to provide access to the literature of simulation modeling and its application to health-care decision making. Medical decision analysts may discover that simulation can capture more detail about the uncertainty in their models than traditional sensitivity analyses. Moreover, large Markov processes are often modeled more efficiently by simulation, especially when the model is attempting to determine the optimal timing for an intervention. Finally, resource constraints will need to be considered in future policy models, and discrete-event operational simulations may offer insight into how this can be accomplished. Management

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Social mechanisms in the population genetics of Tay‐Sachs and other lethal autosomal recessive diseases: A computer simulation model

Cited by 3 publications

References 8 publications

Impact of fertility transmission and other sociodemographic factors on reproductive success and coalescent trees

Impact of fertility transmission and other sociodemographic factors on reproductive success and coalescent trees

Social transmission of reproductive behavior increases frequency of inherited disorders in a young-expanding population

Simulation Modeling and Health-care Decision Making

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