[Screening for the new variant of defective receptor-binding apolipoprotein B-100].
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.


CONCLUSIONS
(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.
Li
Y
Y
Department of Biochemistry, Medical College of Jinan University, Guangzhou 510632, China.
Feng
J
J
Li
W
W
D000328:Adult; D000368:Aged; D053299:Apolipoprotein B-100; D001055:Apolipoproteins B / Q000235:genetics* / Q000378:metabolism; D001665:Binding Sites / Q000235:genetics; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005820:Genetic Testing; D014644:Genetic Variation; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D011973:Receptors, LDL / Q000378:metabolism*
D053299:Apolipoprotein B-100; D001055:Apolipoproteins B; D011973:Receptors, LDL; D004247:DNA