冯雷克林霍增氏神经纤维瘤病（NF1）的分子研究
Molecular study in von Recklinghausen neurofibromatosis (NF1).
作者信息
Vivarelli R, Bartalini G, Calistri L, Balestri P, Figus A, Pirastu M, Cao A, Fois A
机构信息
Istituto di Clinica Pediatrica, Università degli Studi di Siena, Italy.
出版信息
Childs Nerv Syst. 1991 Apr;7(2):98-9. doi: 10.1007/BF00247864.
The von Recklinghausen neurofibromatosis (NF1) gene has been mapped to the pericentromeric region of chromosome 17 and various DNA markers have been identified in this region. We have performed a genetic analysis using an anonymous DNA marker, HHH202 (D17S33), tightly linked to the NF1 gene in seven NF1 Italian families. Only one family was fully informative for the HHH202/RsaI polymorphism. In this family this marker can be used for presymptomatic and prenatal diagnosis. However, it is necessary to use additional flanking markers in order to increase informativeness and to obtain better diagnostic accuracy.
冯·雷克林霍增氏神经纤维瘤病（NF1）基因已被定位于17号染色体的着丝粒周围区域，并且在该区域已鉴定出多种DNA标记。我们利用一个与NF1基因紧密连锁的匿名DNA标记HHH202（D17S33），对7个意大利NF1家系进行了遗传分析。只有一个家系对于HHH202/RsaI多态性是完全信息丰富的。在这个家系中，该标记可用于症状前诊断和产前诊断。然而，为了提高信息丰富度并获得更好的诊断准确性，有必要使用额外的侧翼标记。
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