Summary
In a large kindred with X-linked Menkes disease, linkage studies were performed with a restriction fragment length polymorphism (RFLP) that had been found with a cloned hybridisation probe from the proximal short arm of the X chromosome. This RFLP was considered as a potential genetic marker since the Menkes gene seems to be located near the centromere. Moreover, there is circumstantial evidence that in the (para) centric region of the X chromosome cross-overs are relatively rare. Unexpectedly, however, at least two cross-overs were detected in this family which suggests that the DNA sequence employed is of limited use for early diagnosis and carrier detection in this fatal hereditary disorder.
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Wieacker, P., Horn, N., Pearson, P. et al. Menkes kinky hair disease: A search for closely linked restriction fragment length polymorphism. Hum Genet 64, 139–142 (1983). https://doi.org/10.1007/BF00327110
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DOI: https://doi.org/10.1007/BF00327110