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Which chromosome?

Many of the genes found so far cause genetic conditions when they are missing or altered. When scientists look at the chromosomes of someone with a genetic condition, they occasionally see bits of chromosomes missing: an important clue at the start of a gene hunt. Otherwise, they must use 'reference' fragments of DNA to track genes in affected families.

Chromosomes from a female carrier of Duchenne muscular dystrophy - one of her X-chromosomes is missing the gene (pink dots).
Chromosomes from a female carrier of Duchenne muscular dystrophy - one of her X-chromosomes is missing the gene (pink dots).
Wessex Regional Genetic Laboratory/Wellcome Photo Library

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