Application | Comment | Organism |
---|---|---|
medicine | screening for the 19-bp deletion and the 9-bp repeat in dihydrolfolate reductase gene of 121 mothers of a spina bifida affected child, 109 spina bifida patients, 292 control women and 234 pediatric controls. The 19-bp del/del genotype is not associated with spina bifida risk in mothers and children and both the WT/del and the del/del genotype do not aVect expression relative to the WT/WT genotype. The 9-bp repeat is not associated with spina bifida risk in mothers and children. Expression of the 6/6 allele is 73% increased compared to the 3/3 allele, although not significantly | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
mothers of a spina bifida affected child, spina biWda patients, and controls | - |