Diagnosis of a deletion of steroid sulfatase by polymerase chain reaction and high-performance liquid chromatography.

X-linked ichthyosis is an inherited skin disorder caused by deficiency of steroid sulfatase activity. We studied the possibility of diagnosing the defect in patients and carriers by using polymerase chain reaction (PCR) and high-performance liquid chromatography (HPLC). We chose the usual PCR procedure of 25 temperature cycles. PCR products were resolved by HPLC and quantified by measurement of absorbance at 260 nm. The optimal amount of DNA template was 50 ng using either steroid sulfatase (STS) or beta-globin (internal control) primer. The results show that the amount of STS in ichthyosis patients was null. The amount of STS DNA in mothers of patients was half of that in normal females. By this HPLC-PCR method we will able to diagnose not only ichthyosis patients but also carriers before birth.