Menkes kinky hair disease: a search for closely linked restriction fragment length polymorphism.
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.
D000483:Alleles; D001928:Brain Diseases, Metabolic / Q000235:genetics*; D003434:Crossing Over, Genetic; D004247:DNA / Q000235:genetics*; D005260:Female; D005796:Genes; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000235:genetics*; D010375:Pedigree; D011110:Polymorphism, Genetic; D012729:Sex Chromosome Aberrations / Q000235:genetics; D014960:X Chromosome / Q000648:ultrastructure
D005819:Genetic Markers; D004247:DNA