Journal of clinical immunology · 2008
Analysis of RAB27A gene in griscelli syndrome type 2: novel mutations including a deletion hotspot.
Клинический случайСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
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Mamishi Setareh, Modarressi Mohammad Hossein, Pourakbari Babak, Tamizifar Banafshe, Mahjoub Fatemeh, Fahimzad Alireza, Alyasin Soheila, Bemanian Mohamad Hassan, Hamidiyeh Amir Ali, Fazlollahi Mohammad Reza, Ashrafi Mahmoud Reza, Isaeian Anna, Khotaei Ghamartaj, Yeganeh Mehdi, Parvaneh Nima
Аннотация
INTRODUCTION: Griscelli syndrome type 2 is an autosomal recessive disorder characterized by pigmentary dilution and occurrence of acute phases of hemophagocytosis. The disease is caused by mutations in RAB27A gene, coding a small GTPase involved in terminal phases of cytotoxic granule/melanosome exocytosis.
MATERIALS AND METHODS: We describe the result of mutation analysis among nine patients from seven non-related Persian families. We present four novel mutations including a deletion hot spot (514del 5).
CONCLUSION: This hot spot is flanked by "direct repeats" of nucleotides, which are previously shown to be associated with areas of recurrent small deletions.
MATERIALS AND METHODS: We describe the result of mutation analysis among nine patients from seven non-related Persian families. We present four novel mutations including a deletion hot spot (514del 5).
CONCLUSION: This hot spot is flanked by "direct repeats" of nucleotides, which are previously shown to be associated with areas of recurrent small deletions.