Initial study of the mutation in exon 4 of the LDLR gene in Vietnamese patients with Familial hypercholesterolemia

LAO DUC, THUAN and LE HUYEN AI, THUY and TRUONG KIM, PHUONG (2016) Initial study of the mutation in exon 4 of the LDLR gene in Vietnamese patients with Familial hypercholesterolemia. In: Sixth International Conference on Advances in Applied Science and Environmental Engineering - ASEE 2016, 26-27 November 2016, Kuala Lumpur, Malaysia.

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Abstract

Familial hypercholesterolemia (FH) has been identified as the genetic disorder disease, which is characterized by high total cholesterol, in particularly, the high level of low density lipoprotein (LDL). The normal function of low density lipoprotein receptor is obligate for the normal of lipid profile. The mutation in exon 4 of LDLR gene has been identified to be responsible to FH. In current study, the PCR sequencing method was applied to analyze the mutation of exon 4 of LDLR gene of forty clinical samples, which were diagnosed with FH. As the results, 29 samples of 40 samples, counting for 72.5%. Notably, the genotypes were heterogeneous. In the representative sample DA1, the mutation 355del and c.379G>T (p.V106F) were found, in which, the mutation c.379G>T (p.V106F) has not been previously reported previously. In conclusion, this study being the first comprehensive mutation analysis of the LDLR causing FH in our country. Additionally, mutations identification in exon 4 of LDLR gene is the characteristic of Vietnamese FH patients.

Item Type: Conference or Workshop Item (Paper)
Uncontrolled Keywords: LDLR, exon 4, familial hypercholesterolemia(FH), c.379G>T (p.V106F).
Depositing User: Mr. John Steve
Date Deposited: 20 Mar 2019 11:31
Last Modified: 20 Mar 2019 11:31
URI: http://publications.theired.org/id/eprint/687

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