LESCH-NYHAN MUTATION - PRENATAL DETECTION WITH AMNIOTIC FLUID CELLS

被引：61

作者：

DEMARS, R

SARTO, G

FELIX, JS

BENKE, P

机构：

[1] Department of Medical Genetics, University of Wisconsin, Madison

来源：

SCIENCE | 1969年 / 164卷 / 3885期

关键词：

D O I：

10.1126/science.164.3885.1303

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Cells cultured from the amniotic fluid of a 22-week fetus in a heterozygote for the X-linked Lesch-Nyhan mutation, which results in neurological and developmental disorders, lacked sex chromatin and were unable to incorporate hypoxanthine. The diagnosis of a mutant male was confirmed upon birth of enzyme-deficient, hyperuricemic twin boys whose amniotic membrane cells failed to incorporate hypoxanthine.

引用

页码：1303 / &

共 20 条

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[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1967, 57 (06) : 1735 - +
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