An estimate of unique DNA sequence heterozygosity in the human genome |
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Authors: | Cooper David N Smith Barbara A Cooke Howard J Niemann Susanne Schmidtke Jörg |
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Institution: | (1) Department of Dermatology, San Francisco General Hospital Medical Center, San Francisco, USA;(2) the University of California, San Francisco, USA;(3) San Francisco General Hospital Medical Center, Building 100, Room 269, 1001 Potrero Street, 94110 San Francisco, CA, USA |
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Abstract: | Summary Patients with recessive X-linked ichthyosis
Patients with recessive X-linked ichthyosis (RXLI), one hereditary form of scaly skin, lack activity of the enzyme steroid
sulfatase in all tissues studied. To investigate the molecular defect underlying the lack of enzyme activity, we prepared
antisera against normal enzyme by injecting normal placental microsomal suspensions or partially purified steroid sulfatase
into rabbits. Antibody activity was assessed by immunoprecipitation of detergent solubilized steroid sulfatase. In addition,
we prepared rabbit antisera against RXLI placental microsomal suspensions. To detect immunologically cross-reactive material
in patients' placentas, extracts were studied by immunoblot techniques and by competition with normal enzyme for antibody
binding. Patients' extracts did not contain immunoreactive material co-migrating on electrophoresis with purified enzyme nor
did they inhibit immunoprecipitation of normal enzyme. Sera from rabbits immunized with RXLI placental microsomes contain
no antibodies to normal steroid sulfatase, as judged by their failure to immunoprecipitate normal enzyme or to react with
normal steroid sulfatase on immunoblot. Thus the mutation in RXLI appears to reduce steroid sulfatase enzyme protein as well
as enzyme activity.
Portions of this material have appeared in abstract form in Clinical Research 31:564A, 1983 and 32:138A, 1984 |
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