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Prevalence of polymorphic 21-hydroxylase gene (CA21HB) mutations in salt-losing congenital adrenal hyperplasia.

Abstract：

:Using genomic restriction analysis of 14 unrelated patients with salt-losing congenital adrenal hyperplasia, we identified three different CA21HB mutation patterns: no detectable restriction fragment abnormalities (16/28 haplotypes), deletion of the active CA21HB gene (9/28), and apparent conversion of the active CA21HB gene to the pseudogene CA21HA (3/28). CA21HB gene deletion was associated with HLA-Bw47 in 6 haplotypes and with absent C4B expression in 7. A variety of HLA and C4 types was associated with the other mutations. Apparent conversion of CA21HB to CA21HA was identified by the disparity between the intensity ratios for the major TaqI and BglII hybridization fragments.

journal_name

Biochem Biophys Res Commun

journal_title

Biochemical and biophysical research communications

authors

Jospe N,Donohoue PA,Van Dop C,McLean RH,Bias WB,Migeon CJ

doi

10.1016/0006-291x(87)91484-7

subject

Has Abstract

pub_date

1987-02-13 00:00:00

pages

798-804

issue

3

eissn

0006-291X

issn

1090-2104

pii

0006-291X(87)91484-7

journal_volume

142

pub_type

杂志文章

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