Information de reference pour ce titreAccession Number: | 01445494-200706000-00002.
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Author: | Hongyi, Li 1*; Haiyun, Wei 1; Hui, Zheng 2; Qing, Wenren 2; Honglei, Duan 3; Shu, Meng 1; Weiying, Jiang 1
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Institution: | (1)Department of Medical Genetics, Zhongshan Medical College, Sun Yat-sen University, China(2)Department of Physiology, Medical College, Jinan University, China(3)Department of Genetics, Tower Hospital, Affiliated Hospital of Medical College, Nanjing University, China
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Title: | |
Source: | Prenatal Diagnosis. 27(6):502-506, June 2007.
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Abstract: | Objective: The prenatal genetic diagnosis and counseling of oculocutaneous albinism type II (OCA2) by detecting mutations in the OCA2 gene
Methods: 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.
Results: 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.
Conclusion: 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 (C) 2007 John Wiley & Sons, Ltd.
Copyright (C) 2007 John Wiley & Sons, Inc.
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Author Keywords: | albinism; OCA2; gene mutation; prenatal diagnosis; P gene.
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Language: | English.
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Document Type: | article.
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Journal Subset: | Life & Biomedical Sciences. Science.
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ISSN: | 0197-3851
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DOI Number: | https://dx.doi.org/10.1002/pd.17...- ouverture dans une nouvelle fenêtre
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