Iranian Biomedical Journal
مجله بیومدیکال ایران
IBJ
Basic Sciences
http://ibj.pasteur.ac.ir
1
admin
1028-852X
2008-823X
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10.61186/ibj
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8888
-
en
jalali
1384
4
1
gregorian
2005
7
1
9
3
online
1
fulltext
en
شناسایی یک مورد موتاسیون جدید در اکسون 4 ژن LDL-receptor در یک بیمار ایرانی مبتلا به هیپرکلسترولمی
A Novel Mutation in Exon 4 of the Low Density Lipoprotein (LDL) Receptor Gene in an Iranian Familial Hypercholesterolemia Patient
مقاله کوتاه
Short Communication
<p><font face="times new roman,times,serif">Familial hypercholesterolemia (FH) is an autosomal co-dominant disorder of lipid metabolism, caused by mutations in LDL receptor gene. The penetrance of FH is almost 100%, meaning that half of the offspring of affected parents born with disease. The patients are at risk of premature coronary heart disease (CHD). There is no report about the molecular basis of FH in Iran. Identification of mutations allows unequivocal diagnosis in potentially affected relatives. To characterize genetic aberrations in Iranian FH patients, after ruling out the most common mutation producing familial defective ApoB-100 (R3500Q), we screened exon 4 in LDL receptor gene in 30 heterozygous FH patients by single strand conformation polymorphism (SSCP). A new missense mutation (445G>T) was found in proband and his mother. This causes a Gly to Cys change in repeat 3 of LDL binding domain. This nucleotide change was not found in 50 normal individuals </font></p>
Familial hypercholesterolemia (FH), Low density lipoprotein receptor (LDL-R) gene, Single strand conformation polymorphism (SSCP)
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http://ibj.pasteur.ac.ir/browse.php?a_code=A-10-1-205&slc_lang=en&sid=1
Pejman
Fard-Esfahani
پژمان
فرداصفهانی
100319475328460057423
100319475328460057423
No
Cyrus
Zeinali
سیروس
زینلی
100319475328460057424
100319475328460057424
No
Soghra
Rouhi Dehboneh
صغری
روحی دهنبه
100319475328460057425
100319475328460057425
No
Mohhammad
Taghikhani
محمد
تقی خانی
100319475328460057426
100319475328460057426
No
Shohreh
Khatami
شهره
خاتمی
sh-khatami@mail.pasteur.ac.ir
100319475328460057427
100319475328460057427
Yes