1型神经纤维瘤病的产前诊断和症状前检测
Prenatal diagnosis and presymptomatic detection of neurofibromatosis type 1.
作者信息
Upadhyaya M, Fryer A, MacMillan J, Broadhead W, Huson S M, Harper P S
机构信息
Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff.
出版信息
J Med Genet. 1992 Mar;29(3):180-3. doi: 10.1136/jmg.29.3.180.
Abstract
A two year experience of DNA diagnosis for NF1 is presented. Twenty-three NF1 families have been analysed using 11 closely linked and intragenic markers. Prenatal testing was undertaken for six families; 11 affected subjects and their partners wished to know if they would be informative for future prenatal testing, seven of whom are so far fully informative. Presymptomatic testing was done for six subjects. Despite the availability of a series of closely linked markers, informativeness could not be achieved in all of the families tested.
摘要
本文介绍了两年的神经纤维瘤病1型（NF1）DNA诊断经验。使用11个紧密连锁的基因内标记对23个NF1家庭进行了分析。对6个家庭进行了产前检测；11名患病个体及其伴侣想知道他们是否对未来的产前检测有参考价值，其中7人目前具有完全参考价值。对6名个体进行了症状前检测。尽管有一系列紧密连锁的标记，但并非所有检测的家庭都能实现参考价值。
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