Literature DB >> 3487654

Deletion of the steroid 21-hydroxylase and complement C4 genes in congenital adrenal hyperplasia.

G Rumsby, M C Carroll, R R Porter, D B Grant, M Hjelm.   

Abstract

DNA was analysed from 20 patients with congenital adrenal hyperplasia due to cytochrome P-450 steroid 21-hydroxylase deficiency. Using probes recognising sequences in both the 21-hydroxylase gene and the adjacent fourth component of complement (C4), one patient was found to have a homozygous deletion of DNA which encompassed the C4B and 21-hydroxylase B genes. Evidence is presented for this deletion arising by recombination between homologous regions of 21-hydroxylase A and B. Seven patients appeared to be heterozygous for the same deletion, but no detectable alteration in the 21-hydroxylase gene could be demonstrated in others.

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Year:  1986        PMID： 3487654      PMCID： PMC1049628          DOI： 10.1136/jmg.23.3.204

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  15 in total

1.  Detection of specific sequences among DNA fragments separated by gel electrophoresis.

Authors:  E M Southern
Journal:  J Mol Biol       Date:  1975-11-05       Impact factor: 5.469

2.  Efficient transfer of large DNA fragments from agarose gels to diazobenzyloxymethyl-paper and rapid hybridization by using dextran sulfate.

Authors:  G M Wahl; M Stern; G R Stark
Journal:  Proc Natl Acad Sci U S A       Date:  1979-08       Impact factor: 11.205

3.  Polymorphic DNA region adjacent to the 5' end of the human insulin gene.

Authors:  G I Bell; J H Karam; W J Rutter
Journal:  Proc Natl Acad Sci U S A       Date:  1981-09       Impact factor: 11.205

Review 4.  Recent advances in 21-hydroxylase deficiency.

Authors:  M I New; L S Levine
Journal:  Annu Rev Med       Date:  1984       Impact factor: 13.739

5.  Correlation between a DNA restriction fragment length polymorphism and C4A6 protein.

Authors:  A Palsdottir; S J Cross; J H Edwards; M C Carroll
Journal:  Nature       Date:  1983 Dec 8-14       Impact factor: 49.962

6.  A molecular map of the human major histocompatibility complex class III region linking complement genes C4, C2 and factor B.

Authors:  M C Carroll; R D Campbell; D R Bentley; R R Porter
Journal:  Nature       Date:  1984 Jan 19-25       Impact factor: 49.962

7.  The structural basis of the multiple forms of human complement component C4.

Authors:  K T Belt; M C Carroll; R R Porter
Journal:  Cell       Date:  1984-04       Impact factor: 41.582

8.  HLA linkage and B14, DR1, BfS haplotype association with the genes for late onset and cryptic 21-hydroxylase deficiency.

Authors:  M S Pollack; L S Levine; G J O'Neill; S Pang; F Lorenzen; B Kohn; G F Rondanini; G Chiumello; M I New; B Dupont
Journal:  Am J Hum Genet       Date:  1981-07       Impact factor: 11.025

9.  Neonatal screening for congenital adrenal hyperplasia: a programme based on a novel direct radioimmunoassay for 17-hydroxyprogesterone in blood spots.

Authors:  A M Wallace; G H Beastall; B Cook; A J Currie; A M Ross; R Kennedy; R W Girdwood
Journal:  J Endocrinol       Date:  1986-02       Impact factor: 4.286

10.  Close genetic linkage between HLA and congenital adrenal hyperplasia (21-hydroxylase deficiency).

Authors:  B Dupont; S E Oberfield; E M Smithwick; T D Lee; L S Levine
Journal:  Lancet       Date:  1977 Dec 24-31       Impact factor: 79.321
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  17 in total

1.  HLADR5 and C4BQO high frequency and antinuclear antibodies positivity in patients with 21 hydroxylase deficiency from Campania region.

Authors:  F Parlato; G Pisano; G Misiano; E Cosentini; C Cacciapuoti; M R Cavalcanti; M Brai; A Bellastella
Journal:  J Endocrinol Invest       Date:  1992-06       Impact factor: 4.256

2.  Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency.

Authors:  E Mornet; P Crété; F Kuttenn; M C Raux-Demay; J Boué; P C White; A Boué
Journal:  Am J Hum Genet       Date:  1991-01       Impact factor: 11.025

3.  Rearrangements and point mutations of P450c21 genes are distinguished by five restriction endonuclease haplotypes identified by a new probing strategy in 57 families with congenital adrenal hyperplasia.

Authors:  Y Morel; J André; B Uring-Lambert; G Hauptmann; H Bétuel; M Tossi; M G Forest; M David; J Bertrand; W L Miller
Journal:  J Clin Invest       Date:  1989-02       Impact factor: 14.808

4.  An epitope on C4 beta light (L) chains detected by human anti-Rg; its relationship with beta chain polymorphism and MHC associations.

Authors:  T Robson; R N Heard; C M Giles
Journal:  Immunogenetics       Date:  1989       Impact factor: 2.846

5.  21-hydroxylase deficiency families with HLA identical affected and unaffected sibs.

Authors:  P J Sinnott; P A Dyer; D A Price; R Harris; T Strachan
Journal:  J Med Genet       Date:  1989-01       Impact factor: 6.318

Review 6.  Gene conversions, deletions, and polymorphisms in congenital adrenal hyperplasia.

Authors:  W L Miller
Journal:  Am J Hum Genet       Date:  1988-01       Impact factor: 11.025

7.  Comparison of the structure of HLA-Bw47 to HLA-B13 and its relationship to 21-hydroxylase deficiency.

Authors:  J Zemmour; P D Ennis; P Parham; B Dupont
Journal:  Immunogenetics       Date:  1988       Impact factor: 2.846

8.  Characterization of frequent deletions causing steroid 21-hydroxylase deficiency.

Authors:  P C White; A Vitek; B Dupont; M I New
Journal:  Proc Natl Acad Sci U S A       Date:  1988-06       Impact factor: 11.205

9.  Nonsense mutation causing steroid 21-hydroxylase deficiency.

Authors:  H Globerman; M Amor; K L Parker; M I New; P C White
Journal:  J Clin Invest       Date:  1988-07       Impact factor: 14.808

10.  Frequent deletion and duplication of the steroid 21-hydroxylase genes.

Authors:  J W Werkmeister; M I New; B Dupont; P C White
Journal:  Am J Hum Genet       Date:  1986-10       Impact factor: 11.025
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