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Application of multiplex ligation-dependent probe amplification in the genetic testing of oculocutaneous albinism
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- Author:
- No author available
- Journal Title:
- Chinese Medical Journal
- Issue:
- 16
- DOI:
- 10.1097/CM9.0000000000000356
- Key Word:
- No keyword available
Abstract： To the Editor:Oculocutaneous albinism (OCA) is an autosomal recessive disorder caused by a group of mutations related to the regulation of melanin synthesis and melanosome biogenesis.The prevalence of OCA worldwide is approximately 1 in 17,000.[1] Other than symptomatic treatment,there is no effective treatment for albinism.Due to the variability in clinical phenotypes,it is difficult to classify sub-types simply by clinical features;therefore,molecular and genetic analyses are the most reliable methods for confirming diagnosis,carrier screening,and pre-natal diagnosis.
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