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- W2077273909 abstract "Deficiency of steroid 21-hydroxylase (21-OH), a cytochrome P-450, is the most common cause of congenital adrenal hyperplasia. It is inherited as a monogenic autosomal recessive trait closely linked to the HLA major histocompatibility complex. We previously used a bovine cDNA clone encoding 21-OH to show that certain patients with 21-OH deficiency carry a deletion involving a 21-OH structural gene. We have now isolated a nearly full length clone encoding 21-OH from a human fetal adrenal cDNA library. This library was constructed by David Russell using the Okayama-Berg system, which tends to yield full-length copies. The library was screened by colony hybridization with the bovine cDNA clone encoding 21-OH, yielding about 0.5% positive colonies. One colony contained an insert of about 2000 base pairs (bp), which was short of a full length copy by about 200 bp corresponding to the 5' end of the mRNA. This clone hybridizes strongly to two Taq I fragments of 3.2 and 3.7 kbp in human genomic DNA, and mapping of cosmid clones shows that these fragments correspond to two 21-OH genes. The 3.7 kbp fragment is deleted on all chromosomes carrying 21-OH deficiency and the HLA haplotype A3;Bw47;DR7, and is also deleted on about 20% of other chromosomes carrying 21-OH deficiency. The 3.2 kbp band is deleted in hormonally normal individuals carrying HLA-A1;B8;DR3, and the corresponding gene may therefore not be active in the adrenal gland. This cDNA clone may be useful in the prenatal diagnosis of 21-OH deficiency." @default.
- W2077273909 created "2016-06-24" @default.
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- W2077273909 date "1985-04-01" @default.
- W2077273909 modified "2023-09-26" @default.
- W2077273909 title "872 CLONING OF cDNA ENCODING HUMAN STEROID 21-HYDROXYLASE" @default.
- W2077273909 doi "https://doi.org/10.1203/00006450-198504000-00902" @default.
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