title: Maternal hemochromatosis gene H63D single-nucleotide polymorphism and lead levels of placental tissue, maternal and umbilical cord blood.
abstract: Human hemochromatosis protein (HFE), a major histocompatibility complex class I-like integral membrane protein, participates in the down regulation of intestinal iron absorption by binding to transferrin receptor (TR). HFE competes with transferrin-bound iron for the TR and thus reduces uptake of iron into cells. On the other hand, a lack of HFE increases the intestinal absorption of iron similarly to iron deficiency associated with increasing in absorption and deposition of lead. During pregnancy, placenta cannot prevent transfer lead to the fetus; even low-level lead poisoning causes neurodevelopmental toxicity in children. The aim of this study was to determine the association between the maternal HFE H63D single-nucleotide polymorphism and lead levels in placental tissue, maternal blood and umbilical cord bloods. The study population comprised 93 mother-placenta pairs. Venous blood from mother was collected to investigate lead levels and HFE polymorphism that was detected by standard PCR-RFLP technique. Cord bloods and placentas were collected for lead levels which were analyzed by dual atomic absorption spectrometer system. The HFE H63D genotype frequencies of mothers were found as 75.3% homozygote typical (HH), 23.6% heterozygote (HD) and 1.1% homozygote atypical (DD). Our study results showed that the placental tissue, umbilical cord and maternal blood lead levels of mothers with HD+DD genotypes were significantly higher than those with HH genotype (p<0.05). The present study indicated for the first time that mothers with H63D gene variants have higher lead levels of their newborn's placentas and umbilical cord bloods.
authors.affiliation: Ankara University, Institute of Forensic Sciences, Ankara, Turkey. Electronic address: kayaalti@ankara.edu.tr.
authors.forename: Zeliha
authors.initials: Z
authors.lastname: Kayaalti
authors.affiliation: Ankara University, Institute of Forensic Sciences, Ankara, Turkey.
authors.forename: Dilek
authors.initials: D
authors.lastname: Kaya-Akyüzlü
authors.affiliation: Ankara University, Institute of Forensic Sciences, Ankara, Turkey; Middle Black Sea Passage Generation of Agricultural Research Station Director, Tokat, Turkey.
authors.forename: Esma
authors.initials: E
authors.lastname: Söylemez
authors.affiliation: Ankara University, Institute of Forensic Sciences, Ankara, Turkey.
authors.forename: Tülin
authors.initials: T
authors.lastname: Söylemezoğlu
mesh_terms: D000328:Adult; D001483:Base Sequence; D017931:DNA Primers; D005260:Female; D005312:Fetal Blood / Q000378:metabolism*; D006432:Hemochromatosis / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007854:Lead / Q000097:blood / Q000378:metabolism*; D008565:Membrane Proteins / Q000235:genetics*; D010920:Placenta / Q000378:metabolism*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy
chemical_list: D017931:DNA Primers; C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D007854:Lead
keywords: Human hemochromatosis protein; Lead; Maternal blood; Placental tissue; Single nucleotide polymorphism; Umbilical cord blood