title: [Prenatal genetic diagnosis for two Chinese families affected with oculocutaneous albinism type Ⅱ].
abstract: OBJECTIVE
  To perform genotyping analysis and subsequent prenatal genetic diagnosis for two families affected with oculocutaneous albinism (OCA).
  
  
  METHODS
  Direct sequencing of TYR and P genes was performed in two albino probands. Family members were screened for corresponding mutant alleles. Prenatal genetic diagnoses were performed at early pregnancy by chorionic villus sampling (CVS) at mid-pregnancy through amniocentesis.
  
  
  RESULTS
  No mutations were detected in the TYR gene in either probands, whereas 4 heterozygous mutations of the P gene were found, namely c.406C>T, c.535A>G, c.808-2A>G and c.2180T>C, among which c.535A>G and c.808-2A>G were novel. In the first round prenatal genetic testing, both fetuses were found to have the same genotypes as the probands. Both families had decided to terminate the pregnancy after genetic counseling. In the second round testing, neither of the fetuses was found to be affected by genotyping. The pregnancies continued and two healthy fetuses were born.
  
  
  CONCLUSIONS
  OCA can be classified by genotyping, with which reliable prenatal diagnosis and feasible genetic counseling may be provided.
authors.affiliation: Medical Genetic Laboratory, Maternal and Children Health Hospital of Hunan, Changsha, Hunan 410008, P. R. China. wanghua213@aliyun.com.
authors.forename: Hao
authors.initials: H
authors.lastname: Hu
authors.forename: Hua
authors.initials: H
authors.lastname: Wang
authors.forename: Zhengjun
authors.initials: Z
authors.lastname: Jia
authors.forename: Qiong
authors.initials: Q
authors.lastname: Xie
mesh_terms: D000293:Adolescent; D000328:Adult; D016115:Albinism, Oculocutaneous / Q000175:diagnosis / Q000196:embryology* / Q000201:enzymology / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D008875:Middle Aged; D008969:Molecular Sequence Data; D014442:Monophenol Monooxygenase / Q000235:genetics; D010375:Pedigree; D017354:Point Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis; D055815:Young Adult
chemical_list: D026901:Membrane Transport Proteins; C489600:OCA2 protein, human; D014442:Monophenol Monooxygenase