Fenilketonuriya üçün molekular sinaq və genom skriningi
Annotasiya
Məqalədə molekulyar test və genom skrininqin əhəmiyyətindən bəhs edilir. Müxtəlif etnik qruplarda neonatal skrininq zamanı aşkar edilmiş fenilketonuriyalı xəstələrdə fenilalanin hidroksilaz genini müəyyən edən tədqiqatların nəticələri təqdim olunur. Qeyd olunur ki, fenilalanin hidroksilaz geni fenilketonuriyanın fenotipini təyin edən əsas amildir. Fenilalanin hidroksilaz gen variantlarının spektrinin müəyyən edilməsi erkən diaqnostika, molekulyar mexanizmlərin dəqiqləşdirilməsi, klinik
nəzarət, müalicə və genetik konsultasiya üçün vacibdir.
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