Iranian Biomedical Journal
مجله بیومدیکال ایران
IBJ
Basic Sciences
http://ibj.pasteur.ac.ir
1
admin
1028-852X
2008-823X
-
10.61882/ibj
-
8888
-
en
jalali
1381
12
1
gregorian
2003
3
1
7
2
online
1
fulltext
en
گزارش VNTR سیزده بار تکرار شده متصل به جایگاه ژنی فنیلآلانین هیدروکسیلاز در افراد سالم دو خانواده PKU
Report of VNTR with 13 Repeats Linked to Phenylalanine Hydroxylase Locus in Unaffected Members of Two PKU Families
مقاله کامل
Full Length/Original Article
<font face="times new roman,times,serif">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 </font>
Phenylketonuria (PKU), Phenylalanine hydroxylase (PAH), Variable number of tandem repeats (VNTR)
89
90
http://ibj.pasteur.ac.ir/browse.php?a_code=A-10-1-278&slc_lang=en&sid=1
Maryam
Kamkar
مریم
کامکار