| |
|
 |
 |
|
 |
|
|
|
|
|
|
INHERITANCE OF
G197del MUTATION IN THE LDL RECEPTOR GENE
G197del mutation is identified by heteroduplex analysis. The presence of two additional bands (lanes 1, 6, 7) formed by
a heteroduplexes indicates the presence of the mutation in three members of the family. Electrophoresis was
performed in 8% polyacrylamide gel. DNA was stained by silver. The presence of the mutation
can be seen to correlate with the highly elevated blood serum cholesterol in the patients (blood serum cholesterol figures for all family members are given under the picture). M - molecular weight marker, C - PCR control. INHERITANCE OF E397X MUTATION IN THE LDL RECEPTOR GENE IN THE SLAVIC FAMILY
|
