IEM
    HDL familial hypercholesterolemia

Russian version

Mandelshtam personal page

dept. of molecular genetics


FH general info
clinical features
LDL receptor
mutations in Russia

diagnostics

gene polymorphisms
references
working group

 

 

INHERITANCE OF E397X MUTATION
 IN THE LOW DENSITY LIPOPROTEIN RECEPTOR GENE
 IN THE SLAVIC FAMILY

 

E397XE397X

 

Lanes: 1-9 - Alu I digests of the PCR-amplified low density lipoprotein receptor gene exon 9. E97X mutation in the low-density lipoprotein receptor gene results in the appearance of the novel Alu I site (lanes 1, 4, 7, 8, 9). Lambda phage DNA Pst I digest was used as a molecular weight marker (lane M). The signs for the deceased members of the family are crossed by the slash. The total blood serum cholesterol figures for all members of the family are given under the corresponding lanes.

The material for this page is provided by F.M.Zakharova

INHERITANCE OF G197del  MUTATION IN THE LDL RECEPTOR GENE  IN THE ASHKENAZI  JEWISH  FAMILY

IEM navigation map