Detecting carriers

Recognising X linked recessive inheritance is important because
many women in the family may be at risk of being carriers and
of having affected sons, irrespective of whom they marry.
Genetic assessment is important because of the high recurrence
risk and the severity of many X linked disorders. An X linked
recessive condition must be considered when the family history
indicates maternally related affected males in different
generations of the family. Family history is not always positive,
however, as new mutations are common, particularly in
conditions that are lethal in affected males. Identifying female
gene carriers requires interpretation of the family pedigree and
the results of specific carrier tests, including direct mutation
detection, DNA linkage studies or biochemical analysis.