A Chinese family was reported with a heterozygous cytosine insertion in exon 10 (c.1546_1547insC), inducing a frame shift mutation of MEN1 in the proband and the other two suffering members of his family. This mutation was linked to a novel single nucleotide polymorphism (SNP) in intron 3 (IVS3+18C>T). What is the significance of the new found IVS3+18C>T of MEN1?
Article Multiple endocrine neoplasia type 1 in Japan: Establishment ...
I'm not clear about what you are asking exactly, so my answer is rather speculative. The c.1546_1547insC sequence variant (mutation) is relatively common in MEN: about 2.7% of cases. It may have been demonstrated that the IVS3+18C>T variant is found in most or all alleles harbouring the c.1546_1547insC variant. The correct term for this co-occurrence of these two variants is "association" rather than linkage. The simplest explanation for their association is that the disease-causing variant first occurred on an allele already harbouring the IVS3+18C>T variant. This latter variant may have no functional consequences, but that would have to be tested.
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