Emma, 45 years old, was diagnosed with hypercholesterolemia after a myocardial infarction. Her father died only 40 years old of myocardial infarction, whereas her mother (65 years old) is still alive and healthy. Emma is married to Henrik who has no known heart condition. Testing of the cholesterol level in their two children, a girl and a boy, showed that their son is also affected. Emma’s younger sister has a son with her present husband and two daughters from a previous marriage. Their cholesterol levels were within normal ranges. Emma’s older sister has received treatment for hypercholesterolemia for many years. She has two sons, one of which has hypercholesterolemia. The affected son has three daughters, of whom one is affected.
The family history indicates familial hypercholesterolemia. However, no mutations were found in genes known to cause hypercholesterolemia. A linkage analysis identified a linkage region and the genotypes of three markers in the 1st and 2nd generation of the family are:
|Emma’s mother||Older sister||Emma||Younger sister|
|Marker 1||201 201||201 215||201 215||201 215|
|Marker 2||192 192||192 198||192 198||192 188|
|Marker 3||244 244||244 260||244 260||244 250|
Concordance and Discordance are concepts often used to describe the co-occurrence or not co-occurence of the same disease in pairs of relatives (e.g. in twins).
Explain the terms 1-3. Place the following diseases to the correct effects mentioned above:
Sickle cell disease and the most common forms of α-thalassemia. (40%)
Made by Linda Tømmerdal Roten, Frank Skorpen, Inga Bjørnevoll and Wenche Sjursen
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