ISSN:
1432-069X
Keywords:
X-linked ichthyosis
;
Steroid sulfatase deficiency
;
DNA diagnosis
;
Carrier detection
;
Gene deletion
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Summary 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 geno-type diagnosis) agree well with those based on the arylsulfatase C/β-gal determination and prove the reliability of the biochemical test. Both methods are discussed for carrier detection, prenatal diagnosis, and genetic conselling.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00427656
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