Consanguinity and its relevance to clinical genetics

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Abstract

Marriage between close biological relatives is generally regarded with suspicion and distaste within Western society, reflecting historical and religious prejudice. By comparison, in many other populations there is a strong preference for consanguineous unions, most frequently contracted between first cousins, and marriage outside the family is perceived as a risky and disruptive option. The increasing importance of the genetic contribution to the overall disease profile in both developed and developing countries has highlighted potential problems associated with detrimental recessive gene expression in consanguineous progeny. This review examines the outcomes of consanguineous unions, with proposals as to how the ongoing preference for consanguinity in many communities can best be accommodated from a clinical genetics perspective.

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Most cited references 77

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THE INCIDENCE OF ALKAPTONURIA : A STUDY IN CHEMICAL INDIVIDUALITY.

ArchibaldE. Garrod (1902)

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The costs of human inbreeding and their implications for variations at the DNA level.

A H Bittles, J V Neel (1994)

An analysis of the world literature on the children of first cousin marriages reveals that the depression of survival in offspring followed from birth (including late miscarriages; at about six months gestation or later) to a median age of 10 years is constant (4.4% +/- 4.6) across a wide range of values for population prereproductive mortality. There is thus no evidence for the action of conditional lethals. On the basis of these data, it is calculated that the average human is heterozygous for only 1.4 lethal equivalents capable of acting over this portion of the life cycle. The implications of these results are discussed in the context of genetic counseling, and the biomedical significance of variation in DNA.

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The prevalence and demographic characteristics of consanguineous marriages in Pakistan.

A Bittles, R. Hussain (1998)

Consanguineous marriages are strongly preferred in much of West and South Asia. This paper examines the prevalence and sociodemographic correlates of consanguineous unions in Pakistan using local and national data. Information from 1011 ever-married women living in four multi-ethnic and multi-lingual squatter settlements of Karachi, the main commercial centre of the country, are compared with data from the national 1990/91 Pakistan Demographic and Health Survey (PDHS), based on information provided by 6611 women. Both sets of results indicate that approximately 60% of marriages were consanguineous, over 80% of which were between first cousins. The mean coefficients of inbreeding (F) in the present generation were 0.0316 and 0.0331 for the Karachi and PDHS data respectively. In both surveys the prevalence of consanguineous unions appeared to be unchanged over the past three to four decades. Consanguineous unions were more common among women who were illiterate or had only primary level education, were first or second generation migrants from rural areas of Pakistan or, in the PDHS, lived in rural areas, and whose parents were also consanguineously married.