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The Three Types of Gaucher Disease
| Type 1 | Type 2 | Type 3 | |
|---|---|---|---|
| Whom it Strikes | young adults/adults | infants | children/young adults |
| Distinguishing symptom | no nervous system problems | early nervous system problems | later onset of nervous system problems |
| Effects of disease | varies from mild to severe | dies in infancy | becomes severe |
| Glucocerebrosidase Activity | some activity but much less than normal | very little activity | little activity |
The next question of course was "Why do some people make too little enzyme?" The answer to this question came in 1987, when the first gene mutation that causes Gaucher disease was discovered by Dr. Shoji Tsuji and coworkers.
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The inheritance diagrams below show how a child can be affected depending on the genetic material s/he inherits from her/his parents.
| G = mutated gene g = normal gene | |
|---|---|
| OPTION 01 | |
| Parent 1 (a carrier) Gg | Parent 2 (a carrier) Gg |
Possibilities for each child they have:
| |
| OPTION 02 | |
| Parent 1 (a person with Gaucher disease) GG | Parent 2 (a person with normal genes) gg |
Possibilities for each child they have
| |
| OPTION 03 | |
Parent 1 | Parent 2 |
Possibilities for each child they have
| |
In the early 1970s, Dr. Brady's group devised an enzymatic test based on the enzyme's activity to tell people if they were carriers or not, and a procedure for prenatal diagnosis. These tests give people information about their genetic status so that they can prepare for the future.
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