5
There are two SNPs associated with lactose tolerance in Europeans - rs4988235 and rs182549:
I can drink milk so - just as expected - it turns out that I have mutations in both of these regions.MCM6 contains two of the regulatory regions for LCT, the gene encoding the protein lactase, located in two of the nearby MCM6 introns, rs182549 and rs4988235, approximately 14 kb (-13910) and 22 kb (-22018) upstream of LCT. (...) Mutations in these regions are frequently associated with lactose tolerance into adult life.
In case of rs182549, C is ancestral allele and T is derived. In rs4988235, A is derived and G ancestral:
I have "CT" alleles at rs182549 and "AG" at rs4988235. One ancestral and one derived allele in each case. Each of these mutations is dominant, so one derived is enough to activate its effects on lactose tolerance.Lactose intolerance has primarily been linked to SNPs found in the introns of the MCM6 gene which turn out to have some control over the lactase LCT gene located many thousands of base pairs away.
These SNPs include rs182549 and rs4988235, for which the (T) and (A) alleles, respectively, form a haplotype predicting lactase persistence (thus avoiding lactose intolerance)
But I've heard about people who can drink milk and expected to get derived results, but it turned out that they have ancestral alleles. So maybe there are other, still unknown, mutations which have a similar effect.
Is there anyone on Apricity who has "CC" at rs182549 and "GG" at rs4988235 but can still drink milk?
Bookmarks