Exclusion mapping of 12 X-linked disease loci and 10 DNA probes from the long arm of the X-chromosome.
Specific chromosome rearrangements associated with disease entities are invaluable resources for physical mapping. A deletion on the X chromosome of a male leads to the nullisomy for X-linked genes, resulting in the onset of genetic diseases and/or the absence of the DNA probe detectable sequences. This permits the localization of these loci within the deleted area. On the other hand, the region for some other X-linked loci can be excluded from the deleted area according to the absence of the characteristic symptoms of the disease and/or the presence of the hybridization signals. An interstitial deletion on the long arm of the X chromosome of a male has been characterized by high resolution banding. The karyotype of the proband is 46,Y,del(X)(pter----q21.1::q21.33----qter). The regions for 12 X-linked disease loci as well as 10 DNA probes are excluded from the deleted area, and localized either proximally or distally to the deletion. The results also reveal a controversy in the present linkage data concerning the assignment of these loci.
Yang
H M
HM
Institute of Medical Genetics, University of Copenhagen, Denmark.
Lund
T
T
Niebuhr
E
E
Nørby
S
S
Schwartz
M
M
Shen
L
L
D000015:Abnormalities, Multiple / Q000235:genetics; D002648:Child; D015794:Choroideremia / Q000235:genetics; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D015342:DNA Probes; D005260:Female; D006580:Genetic Carrier Screening; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D012174:Retinitis Pigmentosa / Q000235:genetics; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014960:X Chromosome
D015342:DNA Probes