[Gene deletion of X-linked ichthyosis].
The characterization of steroid sulfatase (STS) gene mutation from seven X-linked ichthyotic patients was performed by multiple polymerase chain reaction (MPCR) which amplified two specific regions at the 5' and 3' end of STS gene. The results indicated that five out seven patients were found to have entire STS gene deletion. Two other cases and five patients' mothers showed two amplification fragments. So did two cases of dominant ichthyosis vulgaris. It was further ascertained that entire gene deletion is the main mutation of STS locus in Chinese population. MPCR is a rapid and simple method for gene diagnosis of X-linked ichthyosis.
Li
M
M
Nanjing Railway Medical College.
D001192:Arylsulfatases / Q000235:genetics*; D044466:Asian People; D001483:Base Sequence; D002872:Chromosome Deletion; D006801:Humans; D016114:Ichthyosis, X-Linked / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods; D043266:Steryl-Sulfatase
D001192:Arylsulfatases; D043266:Steryl-Sulfatase