Report of VNTR with 13 Repeats Linked to Phenylalanine Hydroxylase Locus in Unaffected Members of Two PKU Families
نویسندگان
چکیده مقاله:
Phenylketonuria (PKU) is one of the most common metabolic inborn diseases caused by mutations in the phenylalanine hydroxylase (PAH) gene. This gene is linked to a variable number of tandem repeats (VNTR) region which is a polymorphic marker that facilitates the implementation of prenatal diagnosis and carrier screening. In this study, VNTR with 13 repeats that has not been reported previously was observed in 2 PKU families from Fars province, south of Iran. This allele showed 4% frequency in normal individuals
منابع مشابه
report of vntr with 13 repeats linked to phenylalanine hydroxylase locus in unaffected members of two pku families
phenylketonuria (pku) is one of the most common metabolic inborn diseases caused by mutations in the phenylalanine hydroxylase (pah) gene. this gene is linked to a variable number of tandem repeats (vntr) region which is a polymorphic marker that facilitates the implementation of prenatal diagnosis and carrier screening. in this study, vntr with 13 repeats that has not been reported previously ...
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عنوان ژورنال
دوره 7 شماره 2
صفحات 89- 90
تاریخ انتشار 2003-03
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