Sliwerska Elzbieta, Szpecht-Potocka Agnieszka
Zaklad Genetyki Medycznej, Instytut Matki i Dziecka, Kasprzaka 17A, 01-211 Warszawa, Poland.
Med Wieku Rozwoj. 2002 Oct-Dec;6(4):349-70.
Neural tube defects (NTDs) are a group of diseases caused by a failure of closure of the neural tube. Its aetiology contains both environmental and genetic factors. NTDs have a polygenic background. Genes, which are linked with NTDs occurrence, are both directly and indirectly connected with controlling the process of closure of the neural tube. Ones of those are genes of metabolism of folic acid as MTHFR, MTR, MTRR, CBS, MTHFD, folic acid receptors (FR) regulator genes from PAX family, T, PDGFRA and BRCA1 genes.
神经管缺陷（NTDs）是一组由神经管闭合失败引起的疾病。其病因包括环境和遗传因素。NTDs具有多基因背景。与NTDs发生相关的基因，直接或间接与控制神经管闭合过程有关。其中包括叶酸代谢基因，如MTHFR、MTR、MTRR、CBS、MTHFD，PAX家族的叶酸受体（FR）调节基因、T、PDGFRA和BRCA1基因。
