Abstract:
:Defects in the enzyme steroid 21-hydroxylase (21-OH) result in congenital adrenal hyperplasia (CAH), a frequent disorder of steroid biosynthesis. The gene encoding the enzyme, 21-OHB, has been mapped adjacent to the complement component C4B gene in the human HLA gene complex. DNA-level analyses of patients with CAH have shown that the 21-OHB gene has often been deleted, but the detection of 21-OHB deletions in heterozygotes is often problematic because it is based on relative band intensities. We here report a DNA polymorphism in the C4A91 gene unique to one particular type of 21-OHB deletion occurring solely with a complement phenotype BfF C4A91 B null, shown earlier to be frequent in CAH patients. This marker makes direct detection of the 21-OHB deletion in heterozygotes possible.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Partanen J,Koskimies S,Sipilä Idoi
10.1007/BF00291739subject
Has Abstractpub_date
1988-04-01 00:00:00pages
372-3issue
4eissn
0340-6717issn
1432-1203journal_volume
78pub_type
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