title: [Screening for G1528C mutation in mitochondrial trifunctional protein gene in pregnant women with severe preeclampsia and new born infant].
abstract: OBJECTIVE
  Severe preeclampsia, and hemolysis, elevated liver enzymes, and low platelet syndrome (HELLP) are serious complications of pregnancy, and evidence suggests a genetic basis for these conditions. A G1528C mutation in the alpha-subunit of the mitochondrial trifunctional protein (MTP) gene has been identified in association with these conditions. The aim of this study is to explore the carrier rate of the G1528C mutation in the MTP gene in pregnant women with severe preeclampsia, HELLP syndrome and in their newborns, as well as in a normal pregnant population, so as to determine its association with maternal liver disease among women in Beijing.
  
  
  METHODS
  A multicenter, prospective, case control study was carried out. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to screen the G1528C mutations in the MTP gene. One hundred and forty cord blood samples from cases with severe preeclampsia (n = 130) and HELLP syndrome (n = 10) were collected. Ninety maternal peripheral blood samples among them (84 from severe preeclampsia and 6 from HELLP syndrome) were also collected for screening the common disease-causing mutation in Caucasians. Five hundred and sixty cord blood samples and 90 maternal peripheral blood samples obtained from normal pregnant women served as controls.
  
  
  RESULTS
  The G1528C mutations in the MTP gene were not found in samples from women with severe preeclampsia and their newborns, from women with HELLP syndrome and their new borns, as well as in samples from the normal pregnant women and their new borns.
  
  
  CONCLUSIONS
  The common disease-causing mutation of G1528C in MTP gene in Caucasians is probably not a common mutation in Chinese Han people in Beijing. Further study is needed to expand the sample size among HELLP syndrome and maternal liver diseases in Chinese population.
authors.affiliation: Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing 100083, China.
authors.forename: Rong
authors.initials: R
authors.lastname: Wang
authors.forename: Zi
authors.initials: Z
authors.lastname: Yang
authors.forename: Jin-ming
authors.initials: JM
authors.lastname: Zhu
authors.forename: Jia-lue
authors.initials: JL
authors.lastname: Wang
authors.forename: Hui-xia
authors.initials: HX
authors.lastname: Yang
authors.forename: Qi
authors.initials: Q
authors.lastname: Wang
authors.forename: Gui-rong
authors.initials: GR
authors.lastname: Zhai
authors.forename: Zhi
authors.initials: Z
authors.lastname: Li
authors.forename: Mei
authors.initials: M
authors.lastname: Yu
mesh_terms: D016022:Case-Control Studies; D002681:China / Q000208:ethnology; D005260:Female; D005312:Fetal Blood / Q000737:chemistry; D005315:Fetal Diseases / Q000235:genetics*; D005820:Genetic Testing; D017359:HELLP Syndrome / Q000201:enzymology / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D063991:Mitochondrial Trifunctional Protein; D009097:Multienzyme Complexes / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011225:Pre-Eclampsia / Q000201:enzymology / Q000235:genetics*; D011247:Pregnancy; D011446:Prospective Studies; D018570:Risk Assessment
chemical_list: D009097:Multienzyme Complexes; D063991:Mitochondrial Trifunctional Protein