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In cis / in trans
- Question
- Hello,
what does it mean if mutations were found in cis or in trans?
Many thanks.
Kind regards
C.M. - Answer
- Hello,
every person possesses 46 chromosomes that are arranged in 22 autosomal pairs (in both men and women) and one pair of sex chromosomes (XY in a man, XX in a woman). Half of them (23 chromosomes) stem from the mother and the other half from the father.
The CFTR gene lies on chromosome number 7, and every person possesses one maternal and one paternal CFTR gene. If there is a mutation in both the maternal and the paternal CFTR gene (irrespective of whether they are the same or two different mutations), these mutations are in trans. Since the maternal as well as the paternal CFTR gene is afftected, the person affected by it will contract CF. If two mutations lie in the same gene (of either maternal or paternal descent), they are in cis, and if the other CFTR gene is intact, the affected person will be a healthy heterozygous carrier of two mutations.
I hope to have answered your question to your satisfaction with my explanations.
Kind regards
Prof. Sabina Gallati. - 07.09.2010
