Journal of Science, S. 1 (2016)

Cỡ chữ:  Nhỏ  Vừa  Lớn

Detecting familial defective apolipoprotein B-100 R3500Q in Vietnamese patients by PCRSequencing

BUI VAN CONG, NGUYEN THI NGA, PHAM NGUYEN OANH VU, TRUONG KIM PHUONG

Tóm tắt


    Familial defective apolipoprotein B-100 (FDB) is an autosomal codominant disorderassociated with hypercholesterolemia, caused by mutations in and around codon 3500 of theApolipoprotein (Apo) B gene, which encodes Apo B-100. The first mutation occurred in Argininecodons to be described, and the most characterized, is caused by a G→A transition at nucleotide10,708 and results in the substitution of Arginine by Glutamine at codon 3500 (ApoB R3500Q).In this study, we have identified 27 R3500Q mutations in known FDB patients using PCRSequencingmethod. As the result, most of the patients carried heterozygous mutation R3500Q.PCR-Sequencing method that we have applied in this study proved consistent and so easilyidentified mutations correctly.    

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Journal of Science - Ho Chi Minh City Open University