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Cited by 88Genetic Associations and EpidemiologyEvolution and Genetic DynamicsGenomics and Rare Diseases

On consanguineous marriages and the genetic load

Chakraborty, Ranajit, Chakravarti, Aravinda·1977·Human Genetics
DOI 10.1007/bf00390435
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Abstract

It has been reported that studies of the genetic consequences of inbreeding should adopt a different strategy in populations having a relatively old inbreeding history and where inbreeding levels have varied over time. This contention is tested with a series of 39,495 single-birth records from Bombay, India, collected in a World Health Organization survey on congenital malformations. Our analysis reveals that: 1. the incidence of major malformations is significantly higher among the inbred offspring (1.34%) as compared to that among non-inbred ones (0,81%)--a finding at variance with a previous study in the same area; 2. the inbreeding effect on perinatal mortality (stillbirths and mortality during the first few days of life) is also found to be significant. In view of the above findings, the genetic load as disclosed by inbreeding is computed for perinatal mortality, major malformations and pooling these together. A + B, the measure of the number of lethal equivalents per gamete, is found to be at variance with other reports. Such variability can be ascribed to non-genetic factors. Supporting evidence collected from Brazil and Malaysia in the same survey is also presented.

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  • The estimate of 1.6 lethal equivalents is similar to previous estimates from correlating miscarriages, stillbirths and infant mortalities with autozygosity, and to measurements in other species.

    “This is similar to previous estimates of the lethal load calculated by correlating the number of miscarriages, stillbirths and infant mortalities with the level of autozygosity (fig. 2C)(7, 8), and also similar to measurements in other species(9).”

    From Health and population effects of rare gene knockouts in adult humans with related parents (2016) · cites this paper as [7]

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Authors
Chakraborty, R., & Chakravarti, A.
Affiliations
The University of Texas Health Science Center at Houston (US)
ORCID
Venue
Human Genetics
Publisher
Springer Science and Business Media LLC
Published
1977-01
Volume
36
Issue
1
Pages
47-54
ISSN
  • 0018-7348 (ISSN-L)
  • 0340-6717
  • 1432-1203
DOI
10.1007/bf00390435
OpenAlex
W1963705592
Cited by
88
References
20
Citations by year
2026: 1 · 2024: 1 · 2023: 2 · 2022: 3 · 2021: 2 · 2019: 2 · 2018: 1 · 2016: 3 · 2015: 2 · 2013: 2 · 2012: 2
FWCI
1.24
Type
journal article
Language
en
Open access
closed
Licence
www.springer.com/tdm (tdm)
Locations
  • Human Genetics (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Evolution and Genetic Dynamics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords
consanguineous marriage, inbreeding, genetic load, congenital malformations, perinatal mortality, stillbirth, inbreeding depression, non-genetic factors
MeSH terms
Congenital Abnormalities, Brazil, Consanguinity, Female, Fetal Death, Genes, Lethal, Genetics, Population, Humans, India, Infant Mortality, Infant, Newborn, Malaysia, Male, Pregnancy

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