C677T mutation in the 5,10-MTHFR gene and risk of Down syndrome in Italy.
The C677T polymorphism of the MTHFR gene has been associated to maternal risk of Down syndrome, due to the detection of an higher prevalence of the T allele among mothers of children with trisomy 21, compared to control mothers. In order to confirm this association, we studied the presence of the C677T in 64 mothers of Down syndrome children and 112 controls from central Italy. An higher incidence of the mutant T allele in controls (48.2%) than in Down syndrome children mothers (44%) was detected. These results do not support the presence of an increased risk of Down syndrome in mothers carriers of the T allele in the Italian population.
Stuppia
Liborio
L
Dipartimento di Scienze Biomediche, Sezione di Genetica Medica, Università 'G. D'Annunzio', Chieti, Italy.
Gatta
Valentina
V
Gaspari
Anna Rita
AR
Antonucci
Ivana
I
Morizio
Elisena
E
Calabrese
Giuseppe
G
Palka
Giandomenico
G
D004314:Down Syndrome / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006801:Humans; D007558:Italy; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D009035:Mothers; D020125:Mutation, Missense; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics*; D012307:Risk Factors
D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2)