PRENATAL-DIAGNOSIS OF 21-HYDROXYLASE DEFICIENCY CONGENITAL ADRENAL-HYPERPLASIA USING THE POLYMERASE CHAIN-REACTION

被引：11

作者：

OWERBACH, D ^{[1
]}

DRAZNIN, MB ^{[1
]}

CARPENTER, RJ ^{[1
]}

GREENBERG, F ^{[1
]}

机构：

[1] BAYLOR COLL MED,DEPT MOLEC GENET,HOUSTON,TX 77030

来源：

HUMAN GENETICS | 1992年 / 89卷 / 01期

关键词：

D O I：

10.1007/BF00207055

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We present an improved method for the prenatal diagnosis of congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. The polymerase chain reaction (PCR) was used to analyze DNA from an affected index case, the parents, and a cultured chorionic villus sample for point mutations in the steroid 21-hydroxylase (CYP21) gene. We can predict that the fetus is an unaffected carrier.

引用

收藏

页码：109 / 110

页数：2

相关论文

共 9 条

[1] ABERRANT SPLICING AND MISSENSE MUTATIONS CAUSE STEROID 21-HYDROXYLASE [P-450(C21)] DEFICIENCY IN HUMANS - POSSIBLE GENE CONVERSION PRODUCTS [J].

HIGASHI, Y ;

TANAE, A ;

INOUE, H ;

HIROMASA, T ;

FUJIIKURIYAMA, Y .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1988, 85 (20) :7486-7490

[2]

MILLER WL, 1987, J PEDIATR, V3, P1

[3]

MORNET E, 1991, AM J HUM GENET, V48, P79

[4] 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

[5] DIRECT ANALYSIS OF CYP21B GENES IN 21-HYDROXYLASE DEFICIENCY USING POLYMERASE CHAIN-REACTION AMPLIFICATION [J].

OWERBACH, D ;

CRAWFORD, YM ;

DRAZNIN, MB .

MOLECULAR ENDOCRINOLOGY, 1990, 4 (01) :125-131

[6] OLIGONUCLEOTIDE PROBES FOR HLA-DQA AND DQB GENES DEFINE SUSCEPTIBILITY TO TYPE-1 (INSULIN-DEPENDENT) DIABETES-MELLITUS [J].

OWERBACH, D ;

GUNN, S ;

TY, G ;

WIBLE, L ;

GABBAY, KH .

DIABETOLOGIA, 1988, 31 (10) :751-757

[7]

SHERMAN SL, 1988, AM J HUM GENET, V42, P830

[8] 1ST TRIMESTER PRENATAL TREATMENT AND MOLECULAR GENETIC DIAGNOSIS OF CONGENITAL ADRENAL-HYPERPLASIA (21-HYDROXYLASE DEFICIENCY) [J].

SPEISER, PW ;

LAFORGIA, N ;

KATO, K ;

PAREIRA, J ;

KHAN, R ;

YANG, SY ;

WHORWOOD, C ;

WHITE, PC ;

ELIAS, S ;

SCHRIOCK, E ;

SCHRIOCK, E ;

SIMPSON, JL ;

TASLIMI, M ;

NAJJAR, J ;

MAY, S ;

MILLS, G ;

CRAWFORD, C ;

NEW, MI .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1990, 70 (04) :838-848

[9] CONGENITAL ADRENAL-HYPERPLASIA .1. [J].

WHITE, PC ;

NEW, MI ;

DUPONT, B .

NEW ENGLAND JOURNAL OF MEDICINE, 1987, 316 (24) :1519-1524