PRENATAL-DIAGNOSIS OF CONGENITAL ADRENAL-HYPERPLASIA BY DIRECT DETECTION OF MUTATIONS IN THE STEROID 21-HYDROXYLASE GENE

被引:17
作者
RUMSBY, G [1 ]
HONOUR, JW [1 ]
RODECK, C [1 ]
机构
[1] UNIV COLL & MIDDLESEX SCH MED,DEPT OBSTET,LONDON,ENGLAND
关键词
D O I
10.1111/j.1365-2265.1993.tb00524.x
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
OBJECTIVE Our aim was to develop a rapid and accurate method for the prenatal diagnosis of congenital adrenal hyperplasia using the polymerase chain reaction to detect mutations in the steroid 21-hydroxylase gene. These procedures will help to minimize exposure to dexamethasone treatment of either affected males or unaffected females. DESIGN AND PATIENTS Chorionic villus biopsy samples were obtained between 10 and 11 weeks gestation from three females carrying fetuses at risk of steroid 21-hydroxylase deficiency. Blood samples were taken from parents and the index case in each family. MEASUREMENTS Three common mutations in the 21-hydroxylase B gene were detected following DNA amplification. RESULTS Prenatal diagnosis of congenital adrenal hyperplasia was successful in all three cases. One affected female was treated with dexamethasone to term. In the other two cases, one affected male and one carrier also male, dexamethasone was withdrawn at an early stage. CONCLUSIONS First trimester prenatal diagnosis of steroid 21-hydroxylase deficiency was achieved in three pregnancies with a strategy based on direct detection of gene mutations.
引用
收藏
页码:421 / 425
页数:5
相关论文
共 14 条
[1]   PRENATAL TREATMENT IN CONGENITAL ADRENAL-HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY - UP-DATE 88 OF THE FRENCH MULTICENTRIC STUDY [J].
FOREST, MG ;
BETUEL, H ;
DAVID, M .
ENDOCRINE RESEARCH, 1989, 15 (1-2) :277-301
[2]   R339H AND P453S - CYP21 MUTATIONS ASSOCIATED WITH NONCLASSIC STEROID 21-HYDROXYLASE DEFICIENCY THAT ARE NOT APPARENT GENE CONVERSIONS [J].
HELMBERG, A ;
TUSIELUNA, MT ;
TABARELLI, M ;
KOFLER, R ;
WHITE, PC .
MOLECULAR ENDOCRINOLOGY, 1992, 6 (08) :1318-1322
[3]   EFFECTS OF INDIVIDUAL MUTATIONS IN THE P-450(C21) PSEUDOGENE ON THE P-450(C21) ACTIVITY AND THEIR DISTRIBUTION IN THE PATIENT GENOMES OF CONGENITAL STEROID 21-HYDROXYLASE DEFICIENCY [J].
HIGASHI, Y ;
HIROMASA, T ;
TANAE, A ;
MIKI, T ;
NAKURA, J ;
KONDO, T ;
OHURA, T ;
OGAWA, E ;
NAKAYAMA, K ;
FUJIIKURIYAMA, Y .
JOURNAL OF BIOCHEMISTRY, 1991, 109 (04) :638-644
[4]   A RAPID METHOD FOR THE PURIFICATION OF DNA FROM BLOOD [J].
JEANPIERRE, M .
NUCLEIC ACIDS RESEARCH, 1987, 15 (22) :9611-9612
[5]  
MORNET E, 1991, AM J HUM GENET, V48, P79
[6]   PRO-453 TO SER MUTATION IN CYP21 IS ASSOCIATED WITH NONCLASSIC STEROID 21-HYDROXYLASE DEFICIENCY [J].
OWERBACH, D ;
SHERMAN, L ;
BALLARD, AL ;
AZZIZ, R .
MOLECULAR ENDOCRINOLOGY, 1992, 6 (08) :1211-1215
[7]   SALT-WASTING CONGENITAL ADRENAL-HYPERPLASIA - DETECTION AND CHARACTERIZATION OF MUTATIONS IN THE STEROID 21-HYDROXYLASE GENE, CYP21, USING THE POLYMERASE CHAIN-REACTION [J].
OWERBACH, D ;
BALLARD, AL ;
DRAZNIN, MB .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1992, 74 (03) :553-558
[8]   PRENATAL-DIAGNOSIS OF 21-HYDROXYLASE DEFICIENCY CONGENITAL ADRENAL-HYPERPLASIA USING THE POLYMERASE CHAIN-REACTION [J].
OWERBACH, D ;
DRAZNIN, MB ;
CARPENTER, RJ ;
GREENBERG, F .
HUMAN GENETICS, 1992, 89 (01) :109-110
[9]   GENETIC-ANALYSIS OF THE STEROID 21-HYDROXYLASE GENE FOLLOWING INVITRO AMPLIFICATION OF GENOMIC DNA [J].
RUMSBY, G ;
SKINNER, C ;
HONOUR, JW .
JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY, 1992, 41 (3-8) :827-829
[10]   INVITRO GENE AMPLIFICATION FOR PRENATAL-DIAGNOSIS OF CONGENITAL ADRENAL-HYPERPLASIA [J].
RUMSBY, G ;
HONOUR, JW .
JOURNAL OF MEDICAL GENETICS, 1990, 27 (11) :676-678