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HFE gene mutation and transferrin saturation in very lowbirthweight infants

机译:HFE基因突变和转铁蛋白饱和度极低出生体重儿

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摘要

AIM—To determine if there is an association between high transferrin saturation and the C282Y HFE gene mutation in very low birthweight (VLBW) infants.
METHODS—One hundred and forty three VLBW infants receiving recombinant erythropoietin and 3 to 9 mg/kg/day of enteral iron were studied. Genomic DNA was extracted from filter paper cards. The C282Y mutation was determined by restriction fragment length polymorphism analysis.
RESULTS—Six infants were heterozygous for the mutation; none was homozygous. Ten infants had a transferrin saturation above 80% at least once. No infant was positive for both transferrin saturation above 80% and the mutation.
CONCLUSIONS—The data strongly suggest that there is no association between high transferrin saturation and the HFE gene mutation in VLBW infants during the first weeks of life.

机译:目的—确定极低出生体重(VLBW)婴儿的转铁蛋白饱和度与C282Y HFE基因突变之间是否存在关联。
方法— 143例接受重组促红细胞生成素的VLBW婴儿和3至9 mg /公斤/天肠铁的研究。从滤纸卡提取基因组DNA。通过限制性片段长度多态性分析确定了C282Y突变。
结果— 6例婴儿是该突变的杂合子。没有人是纯合的。 10名婴儿的转铁蛋白饱和度至少一次达到80%以上。没有婴儿的转铁蛋白饱和度高于80%及其突变均为阳性。
结论—数据强烈表明,出生后头几周,VLBW婴儿的高转铁蛋白饱和度与HFE基因突变之间没有关联。 br />

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