| چکیده انگلیسی مقاله |
HNF4A-p.I463Vvariant, reported previously in two distinct families suspected of MODY-1, is assessed in this report to determine whether it is a mutation or a polymorphism (frequency >1%).200 Tunisian healthy people were screened for the presence of HNF4A-p.I463V variant, using RFLP-PCR technique and sequencing. Then, the frequency of this variant was estimated in the Tunisian population and compared to other populations registered in genetic databases. We also performed in-silico analysis using PolyPhen2 and Mutation T@sting softwares to assess the probable effect of HNF4A-p.I463V variant.HNF4A-p.I463V had a rare frequency in different populations and was found in 3 control subjects (1.5%) of the studied population. PolyPhen2 predicted that it is a polymorphism, whereas mutation T@sting suggested a probably affected mutant protein.HNF4A-p.I463V has a relatively high frequency (>1%) in our control cohort. It is also present in different ethnicities and in- silico analysis showed conflicting results. For these reasons, HNF4A-p.I463V should not be considered as a mutation responsible for MODY-1. |
| نویسندگان مقاله |
abdelbasset amara | abdelbasset amara
unit of molecular endocrinology, sousse faculty of medicine, university of sousse, sousse, tunisia ; laboratory of human cytogenetics, molecular genetics and reproductive biology, farhat hached university hospital, sousse, tunisia ; higher institute of biotechnology of monastir, university of monastir, tunisia.
ilhem بنیامین charfeddine | ilhem ben charfeddine
laboratory of human cytogenetics, molecular genetics and reproductive biology, farhat hached university hospital, sousse, tunisia ; higher institute of biotechnology of monastir, university of monastir, tunisia.
houda ghédir | houda ghédir
laboratory of human cytogenetics, molecular genetics and reproductive biology, farhat hached university hospital, sousse, tunisia ; higher institute of biotechnology of monastir, university of monastir, tunisia.
ons mamaï | ons mamaï
laboratory of human cytogenetics, molecular genetics and reproductive biology, farhat hached university hospital, sousse, tunisia ; higher institute of biotechnology of monastir, university of monastir, tunisia.
saloua jemni یعقوب | saloua jemni yacoub
regional center of blood transfusion of sousse, sousse, tunisia.
larbi chaieb | larbi chaieb
dept. of endocrinology and diabetology, farhat hached university hospital, sousse, tunisia.
علی سعد | ali saad
laboratory of human cytogenetics, molecular genetics and reproductive biology, farhat hached university hospital, sousse, tunisia.
molka chadli chaieb | molka chadli chaieb
unit of molecular endocrinology, sousse faculty of medicine, university of sousse, sousse, tunisia ; dept. of endocrinology and diabetology, farhat hached university hospital, sousse, tunisia.
معز gribaa | moez gribaa
laboratory of human cytogenetics, molecular genetics and reproductive biology, farhat hached university hospital, sousse, tunisia.
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