ABCMdb

PMID: 20532200

Kosova G, Pickrell JK, Kelley JL, McArdle PF, Shuldiner AR, Abney M, Ober C
The CFTR Met 470 allele is associated with lower birth rates in fertile men from a population isolate.
PLoS Genet. 2010 Jun 3;6(6):e1000974., [PubMed]

Sentences

No. Mutations Sentence Comment

33 ABCC7 p.Met1101Lys Although the overall allelic architecture in the Hutterites is similar to that of other European populations [14,15], there are only two CF-causing mutations segregating in the Hutterites, DF508 and the more common, Hutterite-specific M1101K. Login to comment 64 ABCC7 p.Met1101Lys doi:10.1371/journal.pgen.1000974.t003 Nine men in this sample carried the M1101K mutation (none were DF508 carriers). Login to comment 65 ABCC7 p.Met1101Lys In all cases, the M1101K mutation was on the Met470 background. Login to comment 66 ABCC7 p.Met1101Lys Therefore, to remove the potential confounding effects of M1101K, we repeated our analyses after excluding these nine men. Login to comment 135 ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Met1101Lys The most common CF causing mutations in Europeans (i.e. DF508, G542X, N1303K, W1282X) and the most common mutation in the Hutterites, M1101K [16], all reside on haplotypes carrying the ancestral, Met470 allele in exon 10 [29], the 9T allele at the polyT locus, and (by inference) the TG10 or TG11 alleles at the (TG)m locus in intron 8 [5]. Login to comment