TY - JOUR A2 - Meyer, Stefan AU - Gille, Johan J. P. AU - Floor, Karijn AU - Kerkhoven, Lianne AU - Ameziane, Najim AU - Joenje, Hans AU - de Winter, Johan P. PY - 2012 DA - 2012/06/21 TI - Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing SP - 603253 VL - 2012 AB - Fanconi anemia (FA) is a rare inherited disease characterized by developmental defects, short stature, bone marrow failure, and a high risk of malignancies. FA is heterogeneous: 15 genetic subtypes have been distinguished so far. A clinical diagnosis of FA needs to be confirmed by testing cells for sensitivity to cross-linking agents in a chromosomal breakage test. As a second step, DNA testing can be employed to elucidate the genetic subtype of the patient and to identify the familial mutations. This knowledge allows preimplantation genetic diagnosis (PGD) and enables prenatal DNA testing in future pregnancies. Although simultaneous testing of all FA genes by next generation sequencing will be possible in the near future, this technique will not be available immediately for all laboratories. In addition, in populations with strong founder mutations, a limited test using Sanger sequencing and MLPA will be a cost-effective alternative. We describe a strategy and optimized conditions for the screening of Fanca，Fancb，Fancc，Gance，Fancf，和 福建并展示自2008年以来一直提到我们诊断服务的54名患者队列中获得的结果。此外，还讨论了家庭中遗传咨询和载体筛查的后续行动。SN - 2090-1267 UR - https://doi.org/10.1155/2012/603253 do - 10.1155 / 2012/603253 jf - 贫血pb - Hindwi Publishing Corporation KW - ER -