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Paper Information

Journal:   IRANIAN BIOMEDICAL JOURNAL   April 2003 , Volume 7 , Number 2; Page(s) 89 To 90.
 
Paper: 

REPORT OF VNTR WITH 13 REPEATS LINKED TO PHENYLALANINE HYDROXYLASE LOCUS IN UNAFFECTED MEMBERS OF TWO PKU FAMILIES

 
 
Author(s):  KAMKAR MANOUCHEHR*, SAADAT M., SAADAT I., HAGHIGHI G.
 
* DEPT OF BIOLOGY,COLLEGE OF SCIENCE , SHIRAZ UNIVERSITY SHIRAZ, IRAN
 
Abstract: 
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.
 
Keyword(s): PHENYLKETONURIA (PKU), PHENYLALANINE HYDROXYLASE (PAH), VARIABLE NUMBER OF TANDEM REPEATS (VNTR)
 
References: 
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