Gene diagnosis in X-linked ichthyosis.
Three families segregating for X-linked ichthyosis (XLI) were analysed using the full-length STS cDNA probe and an anonymous polymorphic DNA sequence closely linked to the STS gene. In patients from two of the families, submicroscopic chromosomal deletions could be detected using both the STS and the GMGX9 (DXS237 locus) probes. Patients in the third family showed the same hybridization pattern as healthy males following molecular hybridization with either of the probes. The results of DNA analysis (indirect genotype diagnosis) agree well with those based on the arysulfatase C/beta-gal determination and prove the reliability of the biochemical test. Both methods are discussed for carrier detection, prenatal diagnosis, and genetic counseling.
Herrmann
F H
FH
Institut für Medizinische Genetik, Ernst-Moritz-Arndt-Universität, Greifswald, German Democratic Republic.
Wirth
B
B
Wulff
K
K
Hadlich
J
J
Voss
M
M
Gillard
E F
EF
Kruse
T A
TA
Ferguson-Smith
M A
MA
Gal
A
A
D001192:Arylsulfatases / Q000172:deficiency; D002872:Chromosome Deletion; D015342:DNA Probes; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods; D005817:Genetic Counseling; D006801:Humans; D007057:Ichthyosis / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D010375:Pedigree; D043266:Steryl-Sulfatase; D001616:beta-Galactosidase / Q000097:blood
D015342:DNA Probes; D001192:Arylsulfatases; D043266:Steryl-Sulfatase; D001616:beta-Galactosidase