title: Tyrosinase gene mutations in the Chinese Han population with OCA1.
abstract: Oculocutaneous albinism (OCA) is a heterogeneous autosomal recessive genetic disorder that affects melanin synthesis. OCA results in reduced or absent pigmentation in the hair, skin and eyes. Type 1 OCA (OCA1) is the result of tyrosinase (TYR) gene mutations and is a severe disease type. This study investigated TYR mutations in a Chinese cohort with OCA1. This study included two parts: patient genetic study and prenatal genetic diagnosis. A total of 30 OCA1 patients were subjected to TYR gene mutation analysis. Ten pedigrees were included for prenatal genetic diagnosis. A total of 100 unrelated healthy Chinese individuals were genotyped for controls. The coding sequence and the intron/exon junctions of TYR were analysed by bidirectional DNA sequencing. In this study, 20 mutations were identified, four of which were novel. Of these 30 OCA1 patients, 25 patients were TYR compound heterozygous; two patients carried homozygous TYR mutations; and three were heterozygous. Among the ten prenatally genotyped fetuses, three fetuses carried compound heterozygous mutations and seven carried no mutation or only one mutant allele of TYR and appeared normal at birth. In conclusion, we identified four novel TYR mutations and showed that molecular-based prenatal screening to detect TYR mutations in a fetus at risk for OCA1 provided essential information for genetic counselling of couples at risk.
authors.affiliation: Prenatal Diagnosis Center,the First Affiliated Hospital of Zhengzhou University,Zhengzhou,Henan 450052,P. R. China.
authors.forename: Ning
authors.initials: N
authors.lastname: Liu
authors.affiliation: Prenatal Diagnosis Center,the First Affiliated Hospital of Zhengzhou University,Zhengzhou,Henan 450052,P. R. China.
authors.forename: Xiang Dong
authors.initials: XD
authors.lastname: Kong
authors.affiliation: Prenatal Diagnosis Center,the First Affiliated Hospital of Zhengzhou University,Zhengzhou,Henan 450052,P. R. China.
authors.forename: Hui Rong
authors.initials: HR
authors.lastname: Shi
authors.affiliation: Prenatal Diagnosis Center,the First Affiliated Hospital of Zhengzhou University,Zhengzhou,Henan 450052,P. R. China.
authors.forename: Qing Hua
authors.initials: QH
authors.lastname: Wu
authors.affiliation: Prenatal Diagnosis Center,the First Affiliated Hospital of Zhengzhou University,Zhengzhou,Henan 450052,P. R. China.
authors.forename: Miao
authors.initials: M
authors.lastname: Jiang
mesh_terms: D016115:Albinism, Oculocutaneous / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D015331:Cohort Studies; D005333:Fetus; D005808:Genes, Recessive / Q000235:genetics; D005838:Genotype; D006801:Humans; D008969:Molecular Sequence Data; D014442:Monophenol Monooxygenase / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D011296:Prenatal Diagnosis / Q000379:methods*; D017422:Sequence Analysis, DNA
chemical_list: D014442:Monophenol Monooxygenase