A comprehensive genetic study of OCA1 shows that it is the primary OCA type in the Chinese population
Background: Oculocutaneous albinism (OCA) is a congenital genetic disorder characterized by defects in melanin production.OCA type 1 (OCA1) is the most serious and common type of OCA.This study characterized mutations associated with OCA1 in a series of Chinese patients.Methods: We recruited 41 unrelated patients with OCA and 100 healthy subjects from the Chinese population.Genomic DNA was extracted from their blood samples.Mutational analysis of tyrosinase (TYR) genes was conducted using polymerase chain reaction (PCR) and direct sequencing,specifically to test the 100 control subjects and exclude the possibility of polymorphism.Mutational analysis and bioinformatics study were performed in TYR mutations.Results: Among the 24 (58.5%) patients with OCA1,21 different TYR mutations were identified,including four novel ones: one frameshift mutation (c.261delA),and three missense mutations (I151S,A241T and N354K).The proband mutation A241T is the rarest of three possible mutations in complex OCA.Conclusion: The findings of this study expand current knowledge and data of mutations associated with OCA1 in China and allow us to estimate or explore the mutation spectrum and relative frequencies of the TYR gene in the Chinese population.
Albinism Oculocutaneous albinism Mutation Tyrosinase TYR Mutation analysis
LIN Yu-ying WEI Ai-hua ZHOU Zhi-yong ZHU Wei HE Xin LIAN Shi
Department of Dermatology, Xuan Wu Hospital, Capital Medical University, Beijing100053, China Department of Dermatology, Beijing Tongren Hospital, Capital Medical University,Beijing 100730, Chin Key Laboratory of Molecular and Developmental Biology, Institute of Genetics and Developmental Biolo
国内会议
黄山
英文
102-110
2012-07-19（万方平台首次上网日期，不代表论文的发表时间）