ABSTRACT
Objective To determine the mutations of common deafness-related genes and explore the clinical significance of universal screening in neonates in Changning District of Shanghai. Methods Microarray gene screening was used to detect the following common mutation sites, including GJB2(c.35delG, c.176 del16, c.235delC, c.299 delAT); SLC26A4(c.IVS7-2A > G, c.2168A > G, c.1174A > T, c.1226G > A, c.1229C > T, c.IVS15+5G > A, c.1975G > C, c.2027T > A); mitochondrial DNA 12S rRNA(m.1555A > G; m.1494C > T)and GJB3(c.538C > T). In addition, hearing screening was conducted. Results In a total of 2 006 neonates, 90 cases(4.49%)had the mutations, including 40(1.99%)carrying a GJB2 single heterozygous mutation, 38(1.89%)carrying a SLC26A4 single heterozygous mutation, 4(0.20%)carrying a mitochondrial 12S rRNA homogeneous mutation, and 6(0.30%)carrying a GJB3 single heterozygous mutation. There were two double heterozygous mutations. In addition, 11 cases failed in the hearing screening. Conclusion There are mutations of deafness-related genes in neonates in Changning District of Shanghai, in which GJB2 and SLC26A4 are common. It remains crucial to combine screening of common deafness-related genes and hearing test in neonates for improving the health quality. Moreover, it is significant in preventing and controlling the hearing disability in three levels.
ABSTRACT
<p><b>OBJECTIVE</b>To monitor the biological levels of environmental endocrine disruptors (EDs, phthalates and surfactants) in the umbilical cord blood and maternal blood of low-birth-weight infants.</p><p><b>METHODS</b>All 30 umbilical cord blood samples and 21 maternal blood samples were collected from low-birth-weight infants. The concentration of four kinds of phthalates (di-2-ethylhexyl phthalate, DEHP; mono-2-ethylhexyl phthalate, MEHP; di-ethyl phthalate, DEP; di-n-butyl phthalate, DBP) and two kinds of surfactants (4-nonylphenol, 4-NP; octylphenol, OP) in these blood samples were measured by using reversed-phase high performance liquid chromatography.</p><p><b>RESULTS</b>The mean birth weight and birth length of low-birth-weight infants were (2158.48 +/- 125.06) g and (45.36 +/- 2.52) cm, respectively. The concentrations of DEP, MEHP, DBP, DEHP, 4-NP and OP were 18.90, 11.87, 7.67, 8.84, 1.51 and 2. 86 mg/L in maternal blood, and the detective rates were 86.7%, 63.3%, 60.0%, 63.3%, 56.7% and 66.7%, respectively. In umbilical cord blood, the concentrations of those EDs were 11.92, 9.94, 5.71, 5.20, 1.12 and 1.19 mg/L; the detective rates were 86.7%, 63.3%, 60.0%, 63.3%, 56.7% and 66.7%. No matter in maternal blood or in umbilical cord blood, the contents and detective rates of phthalates were higher than the surfactants. The concentration of MEHP was higher than its primer, DEHP. The contents of the target EDs in umbilical cord blood were less than those in the matched maternal blood. The percentages were 47.82% -84.05%.</p><p><b>CONCLUSION</b>People could be exposed to EDs from embryo period. And this should be paid attention by the related departments.</p>