A New MsplPCR-RFLP in the Human LDL Receptor Gene

A New MsplPCR-RFLP in the Human LDL Receptor Gene

A new two-allele PCR-based Mspl restriction fragment length polymorphism (RFLP) was revealed at the human LDL receptor locus. The polymorphic Mspl restriction site is located in the 3’-untranslated region of exon 18 and caused by a T to C substitution at nucleotide 3960. This new Mspl RFLP may be us...

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Veröffentlicht in:Human heredity 2008-09, Vol.46 (6), p.339-341
Hauptverfasser: Chae, Jae Jin, Kim, Sung Han, Hong, Sung Soo, Namkoong, Yong, Park, Young Bae, Leé, Chung Choo
Format: Artikel
Sprache:eng
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Zusammenfassung:A new two-allele PCR-based Mspl restriction fragment length polymorphism (RFLP) was revealed at the human LDL receptor locus. The polymorphic Mspl restriction site is located in the 3’-untranslated region of exon 18 and caused by a T to C substitution at nucleotide 3960. This new Mspl RFLP may be useful with other informative RFLPs to follow the segregation of the LDL receptor gene in families with hypercholesterolemia.
ISSN:0001-5652
1423-0062
DOI:10.1159/000154375