- VernacularTitle:线粒体DNA A1555G突变在新生儿大规模筛查的临床意义
- Author:
Jun CAI
1
;
Cai-qun LUO
;
Jian-sheng XIE
;
Wei-qing WU
;
Qian GENG
;
Zhi-yong XU
;
Ying HAO
;
Xiao-xin XU
Author Information
- Publication Type:Journal Article
- MeSH: Base Sequence; DNA Mutational Analysis; methods; DNA, Mitochondrial; genetics; Female; Humans; Infant, Newborn; Male; Polymerase Chain Reaction
- From: Chinese Journal of Medical Genetics 2011;28(4):414-416
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo explore the necessity of large-scale screening of mitochondria DNA (mtDNA) A1555G mutation for prevention of aminoglycoside antibiotic induced deafness in newborns.
METHODSOne thousand blood filter samples were collected from neonates born in July 2008 in Shenzhen. DNA was extracted with Chelex-100 Resin and amplified by PCR. The mtDNA A1555G mutation was determined by denaturing high-performance liquid chromatography(DHPLC) for PCR products. The positive frequency was calculated.
RESULTSThe mitochondrial DNA A1555G mutation was detected in 2 cases of 1000 neonates. The frequency of mutation was 0.2%.
CONCLUSIONThere is a high frequency of mtDNA A1555G mutation in neonates, the large-scale screening of mtDNAA1555G mutation in newborns might detect the individuals sensitive to aminoglycoside antibiotic, which is helpful to guide a rational medication for newborns and the maternal relatives at high-risk. Furthermore, it might be useful to prevent aminoglycoside antibiotic induced deafness.