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[Screening for the new variant of defective receptor-binding apolipoprotein B-100]
1Department of Biochemistry, Medical College of Jinan University, Guangzhou 510632, China.
Objective:
To detect possibly existing unknown mutation(s) in nucleotide sequence coding amino acid residues 2,980 to 3,084, that may lead to familial defective apo B-100, and to provide evidence for evaluating the putative receptor binding domain of apo B-100.
Methods:
The nucleotide sequence coding the amino acid resudues 2,980-3,084 of apo B gene in 341 patients with primary hypercholesteremia and of 50 controls was amplified by PCR and subjected to single strand conformational polymorphism analysis under optimized conditions.
Results:
No abnormal electrophoretic figure was found in the samples from 341 hypercholesterlemic patients and 50 controls.
Conclusion:
(1) Point mutation causing hypercholesterlemia is unlikely to exist, or rare, if any, in the codons 2,980-3,084 of apo B-100 in Chinese. (2) Amino acid residues 2,980-3,084 may not be involved in the receptor-binding of apo B-100.