Autozygosity mapping using unaffected individuals

14 August 2009

Shadow autozygosity mappingThe mapping of lethal recessive disorders is sometimes hampered by lack of access to DNA from affected individuals who have died. Colin Johnson, Ian Carr and colleagues have developed an approach to map such disorders by using genetic data from unaffected family members. This strategy, “shadow autozygosity mapping by linkage exclusion” (SAMPLE), allows identification of candidate regions of the genome for further study. For further detail, see the SAMPLE web page.

Carr IM, Szymanska K, Sheridan E, Markham AF, Bonthron DT, Johnson CA (2009) Shadow autozygosity mapping by linkage exclusion (SAMPLE): A simple strategy to identify the genetic basis of lethal autosomal recessive disorders Hum Mutation 30:1642-9. Journal website