Prenatal diagnosis of oculocutaneous albinism type II and novel mutations in two Chinese families
Article first published online: 27 MAR 2007
Copyright © 2007 John Wiley & Sons, Ltd.
Volume 27, Issue 6, pages 502–506, June 2007
How to Cite
Hongyi, L., Haiyun, W., Hui, Z., Qing, W., Honglei, D., Shu, M. and Weiying, J. (2007), Prenatal diagnosis of oculocutaneous albinism type II and novel mutations in two Chinese families. Prenat. Diagn., 27: 502–506. doi: 10.1002/pd.1713
- Issue published online: 4 JUN 2007
- Article first published online: 27 MAR 2007
- Manuscript Accepted: 21 JAN 2007
- Manuscript Revised: 18 JAN 2007
- Manuscript Received: 16 OCT 2006
- gene mutation;
- prenatal diagnosis;
- P gene
The prenatal genetic diagnosis and counseling of oculocutaneous albinism type II (OCA2) by detecting mutations in the OCA2 gene
DNA samples were extracted from peripheral whole blood and amniocentesis-derived cells. Polymerase chain reaction and automatic sequence analysis were used to screen the OCA2 gene.
Case 1: Two novel heterozygous mutations (p.N476D and p.Y827H) in the P gene were detected in the proband. Molecular prenatal diagnosis on fetal DNA revealed N476D. The pregnancy progressed uneventfully to a normal outcome. Case 2: Mutation analysis of the DNA of family 2 revealed compound heterozygosities for two novel P gene mutations (p.N476D and p.G775R). The pregnant female and the fetus each presented with a single P gene mutation (p.V443I and G775R, respectively). The pregnancy was continued.
This is the first report of prenatal diagnosis performed in families with oculocutaneous albinism type II (OCA2). Also, this report reveals three novel mutations of the P gene. Copyright © 2007 John Wiley & Sons, Ltd.