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A novel missense mutation of the TYR gene in a pedigree with oculocutaneous albinism type 1 from China

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收录情况： ◇ SCIE ◇ 统计源期刊 ◇ CSCD-C ◇ 中华系列

作者：

机构： [1]Department of Dermatology, Xuanwu Hospital, Capital MedicalUniversity, Beijing 100053, China [2]Department of Dermatology, Beijing Tongren Hospital, CapitalMedical University, Beijing 100730, China [3]Key Laboratory of Molecular and Developmental Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing 100101, China

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关键词： oculocutaneous albinism type 1 mutation TYR gene exon homozygous

摘要：

Background The mutation of the tyrosinase (TYR) gene results in oculocutaneous albinism type 1 (OCA1), an autosomal recessive genetic disorder. OCA1 is the most common type of OCA in the Chinese population. Hence, the TYR gene was tested in this study. We also delineated the genetic analysis of OCA1 in a Chinese family. Methods Genomic DNA was isolated from the blood leukocytes of a proband and his family. Mutational analysis at the TYR locus by DNA sequencing was used to screen five exons, including the intron/exon junctions. A pedigree chart was drawn and the fundus of the eyes of the proband was also examined. Results A novel missense mutation p.I151S on exon 1, and homozygous TYR mutant alleles were identified in the proband. None of the mutants was identified among the 100 normal control subjects. Genetic analysis of the proband's wife showed normal alleles in the TYR gene. Thus, the fetus was predicated a carrier of OCA1 with a normal appearance. Conclusion This study provided new information about a novel mutation, p.I151S, in the TYR gene in a Chinese family with OCA1. Further investigation of the proband would be helpful to determine the effects of this mutation on TYR activity. Chin Med J 2011;124(20):3358-3361

基金：

基金编号： 7092040 2007-3111 31071252

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出版当年[2010]版：

大类 | 4 区医学

小类 | 4 区医学：内科

最新[2023]版：

大类 | 3 区医学

小类 | 3 区医学：内科

JCR分区：

出版当年[2009]版：

Q3 MEDICINE, GENERAL & INTERNAL

最新[2023]版：

Q1 MEDICINE, GENERAL & INTERNAL

影响因子： 7.5 最新[2023版] 4.9 最新五年平均 0.952 出版当年[2009版] 0.89 出版当年五年平均 0.858 出版前一年[2008版] 0.983 出版后一年[2010版]

第一作者：

第一作者机构： [1]Department of Dermatology, Xuanwu Hospital, Capital MedicalUniversity, Beijing 100053, China

通讯作者：

通讯机构： [1]Department of Dermatology, Xuanwu Hospital, Capital MedicalUniversity, Beijing 100053, China

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