2004
DOI: 10.1590/s0102-311x2004000200021
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C677T polymorphism of the MTHFR gene and variant hemoglobins: a study in newborns from Salvador, Bahia, Brazil

Abstract: The C677T polymorphism in the methylenetetrahydrofolate reductase gene (MTHFR) is associated with an increase in total homocysteine serum levels (tHcy), described as a risk factor for cardiovascular disease. Eight hundred forty-three neonates from two different maternity hospitals, one public and another private, in Salvador, Bahia, Brazil were screened for this polymorphism by PCR and RFLP. The T-allele frequency in the total sample was 0.23, and the prevalence rates of heterozygous and homozygous carriers we… Show more

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Cited by 18 publications
(9 citation statements)
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“…Cord blood samples were carried out only after signed informed consent form was obtained. We carried out a cross-sectional transversal study comprising 143 newborn babies randomly selected from a group of 843 neonates, as reported (Couto et al, 2004). The babies were born from February to December 2000 in two different maternity hospitals, the Tsylla Balbino, a public maternity hospital and the Santo Amaro, a private maternity hospital located in city of Salvador.…”
Section: Subjectsmentioning
confidence: 99%
“…Cord blood samples were carried out only after signed informed consent form was obtained. We carried out a cross-sectional transversal study comprising 143 newborn babies randomly selected from a group of 843 neonates, as reported (Couto et al, 2004). The babies were born from February to December 2000 in two different maternity hospitals, the Tsylla Balbino, a public maternity hospital and the Santo Amaro, a private maternity hospital located in city of Salvador.…”
Section: Subjectsmentioning
confidence: 99%
“…The T677 allele frequency and TT677 genotype was higher than those observed in other studies of African-descent populations. The T allele frequency was 0.23 and the C/T and T/T genotypes prevalence were 36.2 and 5.3 percent, respectively [29]. …”
Section: Resultsmentioning
confidence: 99%
“…MTHFR geninde A1298C polimorfizmi, tek başına plazma homosistein düzeyini anlamlı olarak etkilemezken, C677T varyantı ile birlikteliğinde homosistein düzeyini arttıra-bilir (5). Bir çalışmada asemptomatik yenidoğanlarda, MTHFR C677T geninde homozigot ve heterozigot mutasyon prevalansının %5.3-36.2 olduğu rapor edilmiştir (9). Literatürde hafif düzeyde homosistein yüksekliğiyle beraber heterozigot MTHFR C677T gen mutasyonuyla ilişkili, intrauterin dönem-de sağ bacakta iliofemoral arter trombozu saptanan bir olgu yayınlanmıştır (7).…”
Section: Discussionunclassified