莱施-奈恩综合征的快速产前诊断
Rapid prenatal diagnosis of the Lesch-Nyhan syndrome.
作者信息
Halley D, Heukels-Dully M J
出版信息
J Med Genet. 1977 Apr;14(2):100-2. doi: 10.1136/jmg.14.2.100.
Abstract
Autoradiographic demonstration of 3H-hypoxanthine incorporation in small numbers of amniotic fluid cells cultured on coverslips is a rapid and practical technique in the prenatal diagnosis of the Lesch-Nyhan mutation. An affected male fetus, a normal male fetus, and a heterozygous female fetus were identified within 14 days after amniocentesis in three pregancies at risk for the Lesch-Nyhan syndrome.
摘要
通过放射自显影法证明在盖玻片上培养的少量羊水细胞中掺入3H-次黄嘌呤，是产前诊断莱施-奈恩突变的一种快速且实用的技术。在3例有莱施-奈恩综合征风险的妊娠中，羊膜穿刺术后14天内就鉴定出了1例患病男胎、1例正常男胎和1例杂合子女胎。
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Science. 1970 Aug 14;169(3946):688-9. doi: 10.1126/science.169.3946.688.
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Preventive control of the Lesch-Nyhan syndrome.莱施-奈恩综合征的预防性控制
Obstet Gynecol. 1972 Jul;40(1):109-13.
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Transport and storage of amniotic fluid samples for prenatal diagnosis of metabolic diseases.
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Rapid tissue culture and microbiochemical methods for analyzing colonially grown fibroblasts from normal, Lesch-Nyhan and Tay-Sachs patients and amniotic fluid cells.用于分析来自正常、莱施-尼汉病和泰-萨克斯病患者的成纤维细胞集落培养物以及羊水细胞的快速组织培养和微生物化学方法。
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