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Genetic analyses of Chinese patients with digenic oculocutaneous albinism

摘要:

Background Oculócutaneous albinism (OCA) is a heterogeneous and autosomal recessive disorder in all populations worldwide.The mutational spectra of OCA are population-specific.Some OCA patients carry mutations from different OCA genes.In this study,we investigated the frequency of digenic mutations in Chinese OCA patients.Methods Genomic DNAs were extracted from the blood samples of 184 clinically diagnosed OCA patients and 120 unaffected subjects.The amplified DNA segments of the exons and exon-intron boundaries were screened for mutations of TYR,OCA2,TYRP1,SLC45A2,and HPS1 by direct sequencing.To exclude the previously unidentified alleles from polymorphisms,samples from 120 unaffected controls were sequenced for the same regions of variations.Results In all 184 patients,134 had two pathologic mutations on one locus.Eleven cases had no apparent pathologic mutations in any of the genes studied.Among the remaining 39 patients who had only one pathologic mutation,five patients (2.7% in total) were found to carry the mutational alleles on a second locus in TYR,OCA2 or SLC45A2.Of the five digenic OCA patients,four patients were clinically diagnosed as OCA2 and one patient as OCA1.A previous unidentified allele p.G188D in SLC45A2 was identified,which was not present in the 120 unaffected controls.Conclusions The identification of the digenic OCA patients suggests the synergistic roles among TYR,OCA2 and SLC45A2 during melanin biosynthesis,which may cause OCA under digenic mutations.This information will be useful for gene diagnosis and genetic counseling of OCA in China.

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作者单位: Department of Dermatology, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China [1] Department of Dermatology, Xuanwu Hospital, Capital Medical University, Beijing 100053, China [2] State Key Laboratory of Molecular Developmental Biology,Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing 100101, China [3]
期刊: 《中华医学杂志(英文版)》2013年126卷2期 226-230页 SCIMEDLINEISTICCSCDBP
栏目名称: ORIGINAL ARTICLES
DOI: 10.3760/cma.j.issn.0366-6999.20121104
发布时间: 2013-04-19
基金项目:
This work was supported in part by grants from the National Natural Science Foundation of China the Basic-Clinical Medical Research Program of Capital Medical University,China the State Key Laboratory of Molecular Developmental Biology,China
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