• Publications
  • Influence
Consanguinity, human evolution, and complex diseases
  • A. Bittles, M. Black
  • Biology, Medicine
    Proceedings of the National Academy of Sciences
  • 26 January 2010
TLDR
A range of primarily social factors, including urbanization, improved female education, and smaller family sizes indicate that the global prevalence of consanguineous unions will decline, which will initially result in decreased homozygosity, accompanied by a reduction in the expression of recessive single-gene disorders.
The Role and Significance of Consanguinity as a Demographic Variable
TLDR
The predominant western stereotype of inbreeding is of a poor and remote community, a large proportion of whose inhabitants suffer from obscure physical disorders and exhibit obvious symptoms of mental subnormality, but isolated, inbred communities occasionally have been documented.
The costs of human inbreeding and their implications for variations at the DNA level
TLDR
An analysis of the world literature on the children of first cousin marriages reveals that the depression of survival in offspring followed from birth to a median age of 10 years is constant, and there is no evidence for the action of conditional lethals.
The four ages of Down syndrome.
TLDR
A major re-appraisal in attitudes towards DS is required to ensure that the medical and social needs of people with the disorder are adequately met across their entire lifespan, and specific recognition of the comorbidities that can arise at different ages is needed.
The influence of intellectual disability on life expectancy.
TLDR
A study of trends in the survival profiles of people with intellectual disability in Western Australia indicates a major and expanding increase in the service requirements of this aging, intellectually disabled population during the past two generations.
Reproductive behavior and health in consanguineous marriages
In many regions of Asia and Africa, consanguineous marriages currently account for approximately 20 to 50% of all unions, and preliminary observations indicate that migrants from these areas continue
The prevalence and demographic characteristics of consanguineous marriages in Pakistan.
TLDR
The prevalence of consanguineous unions appeared to be unchanged over the past three to four decades in Pakistan, and was more common among women who were illiterate or had only primary level education.
The changing survival profile of people with Down's syndrome: implications for genetic counselling
TLDR
The substantial increase in survival across the study period means that the life expectancy of people with Down's syndrome is approaching that of the general population, but accompanied by a range of significant mid‐life health problems.
Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report
TLDR
The ongoing strong preferential culture of close kin marriages in many societies, and among migrant communities in Western countries, merits an equivalently detailed assessment of the social and genetic benefits of consanguinity in future studies.
Clinical, social, and ethical implications of changing life expectancy in Down syndrome.
TLDR
After improvements in basic public health measures, life expectancy in most developed nations increased over the course of the 20th century, and this trend included people with learning disability, and by the end of that century, the survival estimates for people with mild learning disability living in developed countries was 70 years, and nearly 60 years of age for those with severe learning disability.
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