A Novel Deletion Mutation of the TYR Gene in a Patient With Oculocutaneous Albinism Type 1A
| Author | Farah Talebi | en |
| Author | Farideh Ghanbari | en |
| Author | Javad Mohammadi Asl | en |
| Issued Date | 2016-01-01 | en |
| Abstract | Introduction: Oculocutaneous albinism (OCA) is a genetically heterogeneous autosomal recessive genetic disorder that is characterized by reduced or completely absent pigmentation in the hair, skin, and eyes. Case Presentation: In the present study, in order to verify OCA type 1A in a patient with clinical symptoms, and to study the variations of the TYR gene for the first time in southwest Iran, this gene was entirely sequenced. Conclusions: A novel homozygous mutation, the deletion of exons 1 - 5 on the TYR gene, was found on the molecular genetic testing of this patient. Exon 1 - 5 deletion on TYR causes a lack of the tyrosinase enzyme and disturbs the melanin biosynthesis process. | en |
| DOI | https://doi.org/10.17795/gct-33678 | en |
| Keyword | <b>Oculocutaneous Albinism 1 A</b> | en |
| Keyword | <b>Sequence Analysis | en |
| Keyword | DNA</b> | en |
| Keyword | <i><b>TYR</b></i> | en |
| Publisher | Brieflands | en |
| Title | A Novel Deletion Mutation of the TYR Gene in a Patient With Oculocutaneous Albinism Type 1A | en |
| Type | Case Report | en |
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