Autosomal-rezessiv/en: Unterschied zwischen den Versionen

Version vom 16. April 2019, 21:23 Uhr

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In autosomal recessive hereditary diseases, each cell carries two mutant copies of the gene in question.

People suffering from autosomal recessive disease usually have parents in whom the disease does not occur and who each have a copy of the mutated gene ("mutation carriers"). Autosomal recessive diseases occur sporadically in affected families and not necessarily in every generation. Examples are autosomal recessive polycystic kidney disease (ARPKD) and cystic fibrosis (CF).

The figure shows a family in which both parents are not affected, but both carriers each have a copy of a gene mutation that causes autosomal recessive disease. In this example, one child is sick and the other three are not, with two of the three unaffected children carrying a copy of the mutated gene without the disease occurring.

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 People suffering from autosomal recessive disease usually have parents in whom the disease does not occur and who each have a copy of the mutated gene ("mutation carriers"). Autosomal recessive diseases occur sporadically in affected families and not necessarily in every generation. Examples are autosomal recessive polycystic kidney disease (ARPKD) and cystic fibrosis (CF).
-Die Abbildung zeigt eine Familie, in der beide Eltern nicht erkrankt sind, aber beide Träger jeweils einer Kopie einer Genmutation, die eine autosomal-rezessive Krankheit verursacht. Bei diesem Beispiel ist ein Kind erkrankt, die anderen drei nicht, wobei zwei der drei nicht erkrankten Kinder eine Kopie des mutierten Gens tragen, ohne dass die Krankheit auftritt.
+The figure shows a family in which both parents are not affected, but both carriers each have a copy of a gene mutation that causes autosomal recessive disease. In this example, one child is sick and the other three are not, with two of the three unaffected children carrying a copy of the mutated gene without the disease occurring.
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