4 NEW NUCLEOTIDE-SEQUENCE POLYMORPHISMS IN THE LDL RECEPTOR GENE DETECTED BY SSCP ANALYSIS

Seven nucleotide sequence polymorphisms were detected within exons of the low-density lipoprotein (LDL) receptor gene using single-strand co nformation polymorphism (SSCP) analysis followed by direct sequence an alysis on amplified DNA. Four nucleotide changes at nucleotide positio ns 1617, 1725, 2232, and 2635 were new nucleotide sequence polymorphis ms not previously described. The remaining three nucleotide changes we re identical with restriction fragment length polymorphisms and a prev iously reported nucleotide sequence polymorphism. These nucleotide seq uence polymorphisms, detectable by SSCP analysis, are useful genetic m arkers for linkage analysis of the LDL receptor gene and familial hype rcholesterolemia.