Consanguinity - Genetic Disorders

Genetic Disorders

The offspring of consanguinous relationships are at greater risk of certain genetic disorders. Autosomal recessive disorders occur in individuals who are homozygous for a particular recessive gene mutation. This means that they carry two copies (alleles) of the same gene. Except in certain rare circumstances (new mutations or uniparental disomy) both parents of an individual with such a disorder will be carriers of the gene. Such carriers are not affected and will not display any signs that they are carriers, and so may be unaware that they carry the mutated gene. As relatives share a proportion of their genes, it is much more likely that related parents will be carriers of an autosomal recessive gene, and therefore their children are at a higher risk of an autosomal recessive disorder. The extent to which the risk increases depends on the degree of genetic relationship between the parents; so the risk is greater in mating relationships where the parents are close relatives, but for relationships between more distant relatives, such as second cousins, the risk is lower (although still greater than the general population).

The low genetic heterozygosity associated with increased consanguinity in a population (identified by microsatellite markers) increases its susceptibility to infectious pathogens such as tuberculosis and hepatitis.