TWIN GENES AND ENDOCRINE DISEASE - CYP21 AND CYP11B GENES

被引:18
作者
HELMBERG, A [1 ]
机构
[1] UNIV INNSBRUCK, SCH MED, INST GEN & EXPTL PATHOL, DEPT MOLEC BIOL, A-6020 INNSBRUCK, AUSTRIA
来源
ACTA ENDOCRINOLOGICA | 1993年 / 129卷 / 02期
关键词
D O I
10.1530/acta.0.1290097
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
CYP21 and CYP11B genes have a common feature: they are ''twin'' genes. It seems as if doubling and subsequent drifting apart rendered these genes particularly sensitive to defect acquisition by mechanisms involving recombinatorial events. This creates specific difficulties in the molecular diagnosis of defects.
引用
收藏
页码:97 / 108
页数:12
相关论文
共 79 条
[1]   DNA AND RNA ANALYSIS OF CYTOCHROME-P-450 21-HYDROXYLASE - TRANSCRIPTIONAL ACTIVITY IN CONGENITAL ADRENAL-HYPERPLASIA [J].
ALOTHMAN, AN ;
DOCHERTY, K ;
MAKGOBA, MW ;
SHEPPARD, MC ;
LONDON, DR .
JOURNAL OF MOLECULAR ENDOCRINOLOGY, 1988, 1 (03) :157-164
[2]   MUTATION IN THE CYP21B GENE (ILE-172-]ASN) CAUSES STEROID 21-HYDROXYLASE DEFICIENCY [J].
AMOR, M ;
PARKER, KL ;
GLOBERMAN, H ;
NEW, MI ;
WHITE, PC .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1988, 85 (05) :1600-1604
[3]  
BENTINCK R C, 1952, Postgrad Med, V11, P301
[4]   CLINICAL HETEROGENEITY OF 21-HYDROXYLASE DEFICIENCY OF SIBS WITH IDENTICAL 21-HYDROXYLASE GENES [J].
BORMANN, M ;
KOCHHAN, L ;
KNORR, D ;
BIDLINGMAIER, F ;
OLEK, K .
ACTA ENDOCRINOLOGICA, 1992, 126 (01) :7-9
[5]  
CHIOU SH, 1990, J BIOL CHEM, V265, P3549
[6]   CLONING OF CDNA-ENCODING STEROID 11-BETA-HYDROXYLASE (P450C11) [J].
CHUA, SC ;
SZABO, P ;
VITEK, A ;
GRZESCHIK, KH ;
JOHN, M ;
WHITE, PC .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1987, 84 (20) :7193-7197
[7]   CLONING AND CHARACTERIZATION OF THE BOVINE GENE FOR STEROID 21-HYDROXYLASE (P-450C21) [J].
CHUNG, BC ;
MATTESON, KJ ;
MILLER, WL .
DNA-A JOURNAL OF MOLECULAR & CELLULAR BIOLOGY, 1985, 4 (03) :211-219
[8]   PULSED FIELD GEL-ELECTROPHORESIS IDENTIFIES A HIGH DEGREE OF VARIABILITY IN THE NUMBER OF TANDEM 21-HYDROXYLASE AND COMPLEMENT C-4 GENE REPEATS IN 21-HYDROXYLASE DEFICIENCY HAPLOTYPES [J].
COLLIER, S ;
SINNOTT, PJ ;
DYER, PA ;
PRICE, DA ;
HARRIS, R ;
STRACHAN, T .
EMBO JOURNAL, 1989, 8 (05) :1393-1402
[9]   THE PRODUCT OF THE CYP11B2 GENE IS REQUIRED FOR ALDOSTERONE BIOSYNTHESIS IN THE HUMAN ADRENAL-CORTEX [J].
CURNOW, KM ;
TUSIELUNA, MT ;
PASCOE, L ;
NATARAJAN, R ;
GU, JL ;
NADLER, JL ;
WHITE, PC .
MOLECULAR ENDOCRINOLOGY, 1991, 5 (10) :1513-1522
[10]  
De Crecchio L., 1865, MORGAGNI, V7, P151