Abstract:
: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.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Wieacker P,Horn N,Pearson P,Wienker TF,McKay E,Ropers HHdoi
10.1007/BF00327110subject
Has Abstractpub_date
1983-01-01 00:00:00pages
139-42issue
2eissn
0340-6717issn
1432-1203journal_volume
64pub_type
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