作者
Patrizia De Marco, Anna Moroni, Elisa Merello, Raffaella de Franchis, Luciano Andreussi, Richard H Finnell, Robert C Barber, Armando Cama, Valeria Capra
发表日期
2000/11/27
期刊
American journal of medical genetics
卷号
95
期号
3
页码范围
216-223
出版商
John Wiley & Sons, Inc.
简介
Periconceptional folate supplementation reduces the recurrence and occurrence risk of neural tube defects (NTD) by as much as 70%, yet the protective mechanism remains unknown. Inborn errors of folate and homocysteine metabolism may be involved in the aetiology of NTDs. Previous studies have demonstrated that both homozygosity for the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene, and combined heterozygosity for the C677T and for another mutation in the same gene, the A1298C polymorphism, represent genetic risk factors for NTDs. In an attempt to identify additional folate related genes that contribute to NTD pathogenesis, we performed molecular genetic analysis of folate receptors (FRs). We identified 4 unrelated patients out of 50 with de novo insertions of pseudogene (PS)‐specific mutations in exon 7 and 3′UTR of the FRα gene, arising by microconversion events …
引用总数
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P De Marco, A Moroni, E Merello, R de Franchis… - American journal of medical genetics, 2000