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A comprehensive study of oculocutaneous albinism type 1 reveals three previously unidentified alleles on the TYR gene

  • Genes and Skin
  • Published:
European Journal of Dermatology Aims and scope

Abstract

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 Han 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 three previously unidentified alleles (PUAs): one frameshift mutation (c.216delA) and two missense mutations (A241T and N364K). The proband mutation A241T carries 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.

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Authors and Affiliations

  1. Department of Dermatology, Xuan Wu Hospital, Capital Medical University, 45 Changchun St, Xuanwu District, Beijing, 100053, China

    Yu-ying Lin, Shi Lian & Wei Zhu

  2. Department of Dermatology, Beijing Tongren Hospital, Capital Medical University, Beijing, 100730, China

    Ai-hua Wei

  3. Key Laboratory of Molecular and Developmental Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing, 100101, China

    Xin He & Zhi-yong Zhou

Authors
  1. Yu-ying Lin
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  2. Ai-hua Wei
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  3. Xin He
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  4. Zhi-yong Zhou
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  5. Shi Lian
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  6. Wei Zhu
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Corresponding author

Correspondence to Wei Zhu.

Additional information

Both authors contributed equally.

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Lin, Yy., Wei, Ah., He, X. et al. A comprehensive study of oculocutaneous albinism type 1 reveals three previously unidentified alleles on the TYR gene. Eur J Dermatol 24, 168–173 (2014). https://doi.org/10.1684/ejd.2014.2304

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  • DOI: https://doi.org/10.1684/ejd.2014.2304

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