title: [Early prenatal genetic diagnosis of oculocutaneous albinism type I in seven families].
abstract: OBJECTIVE
  To evaluate the feasibility of genetic analysis of tyrosinase gene (TYR) in oculocutaneous albinism type I (OCA1). Mutation analysis and prenatal genetic diagnosis of TYR gene for seven pedigrees with OCA1 were performed.
  
  
  METHODS
  PCR was used to amplify the exons, exon-intron boundaries and promoter of the TYR gene in the probands and/or their parents. The products were further analyzed by direct sequencing. Prenatal genetic diagnoses were performed by chorionic villus sampling after the genotypes of the probands or their parents were determined.
  
  
  RESULTS
  Compound heterozygous mutations were detected in all pedigrees, which included 9 mutations, namely R76Q, c.232insGGG, R116X, R278X, R299H, c.929-930insC, IVS2-11delTT, Q399X and W400L. Among these, R76Q and Q399X were identified for the first time. Seven families have requested prenatal diagnoses. One fetus was detected with double mutations of TYR gene, and the parents have decided to have therapeutic abortion. Two fetuses did not carry the mutations identified in the probands, whilst other four fetuses were carriers of heterozygous mutations. Six families decided to carry on with the pregnancies. And the neonates did not show any symptoms of OCA after birth.
  
  
  CONCLUSIONS
  Direct sequencing of the TYR gene is helpful for genetic counseling, prenatal diagnosis and carriers screening of OCA1.
authors.affiliation: Center of Prenatal Diagnosis, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, People's Republic of China.
authors.forename: Qinghua
authors.initials: Q
authors.lastname: Wu
authors.forename: Hui-rong
authors.initials: HR
authors.lastname: Shi
authors.forename: Ning
authors.initials: N
authors.lastname: Liu
authors.forename: Ning
authors.initials: N
authors.lastname: Lu
authors.forename: Miao
authors.initials: M
authors.lastname: Jiang
authors.forename: Zhen-hua
authors.initials: ZH
authors.lastname: Zhao
authors.forename: Xiang-dong
authors.initials: XD
authors.lastname: Kong
mesh_terms: D016115:Albinism, Oculocutaneous / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D014442:Monophenol Monooxygenase / Q000235:genetics; D009154:Mutation; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods
chemical_list: D014442:Monophenol Monooxygenase