Abstract:
:Seven nucleotide sequence polymorphisms were detected within exons of the low-density lipoprotein (LDL) receptor gene using single-strand conformation polymorphism (SSCP) analysis followed by direct sequence analysis on amplified DNA. Four nucleotide changes at nucleotide positions 1617, 1725, 2232, and 2635 were new nucleotide sequence polymorphisms not previously described. The remaining three nucleotide changes were identical with restriction fragment length polymorphisms and a previously reported nucleotide sequence polymorphism. These nucleotide sequence polymorphisms, detectable by SSCP analysis, are useful genetic markers for linkage analysis of the LDL receptor gene and familial hypercholesterolemia.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Yamakawa-Kobayashi K,Kobayashi T,Obara T,Hamaguchi Hdoi
10.1007/BF00216148subject
Has Abstractpub_date
1993-08-01 00:00:00pages
76-8issue
1eissn
0340-6717issn
1432-1203journal_volume
92pub_type
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