ABCMdb

PMID: 11404347

Slatkin M, Bertorelle G
The use of intraallelic variability for testing neutrality and estimating population growth rate.
Genetics. 2001 Jun;158(2):865-74., [PubMed]

Sentences

No. Mutations Sentence Comment

253 ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* the recent growth rate of European populations is not TABLE 2 Parameters and results for the CFTR data sets p n N0 ␮ ϭ 0.0001 ␮ ϭ 0.0005 ␮ ϭ 0.001 ␮ ϭ 0.0005 Mutation (ϫ10-4 ) i So (ϫ103 ) (ϫ107 ) (single) (single) (double) (double) ⌬F508 132 2112 59 160.0 20.0 0.0 0.0 6.0 ϫ 10-73 6.3 ϫ 10-21 ⌬F508 132 2112 118 160.0 20.0 0.0 5.5 ϫ 10-91 4.4 ϫ 10-39 1.0 ϫ 10-4 G542X 6.8 116 9 170.6 5.82 8.9 ϫ 10-8 0.012 0.231 0.907 N1303K 5.6 59 7 105.3 5.18 5.9 ϫ 10-4 0.180 0.639 0.977 1717-1G-A 3.2 24 3 75.0 4.38 0.031 0.370 0.695 0.945 R1162X 2.2 68 4 309.1 5.18 3.4 ϫ 10-4 0.082 0.313 0.829 Definitions are as in Table 1, except the mutation rates. Login to comment 271 ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* TABLE 3 Values of ␹2 ϭ -2 log(L0/L*) calculated as described in the text for each allele at CFTR compared to the rest ␮ ϭ 0.00028: ␮ ϭ 0.00028: ␮ ϭ 0.00084: ␮ ϭ 0.00084: Mutation So ϭ 59 So ϭ 118 So ϭ 59 So ϭ 118 ⌬F508 20.3 11.0 19.6 4.6 G542X 5.8 1.4 5.4 0.8 N1303K 8.4 3.8 7.9 3.0 1717-1G-A 3.4 0.5 3.5 1.0 R1162X 1.8 0.6 1.6 0 So was estimated by using a parsimony algorithm to infer because they depend on assumed values of parameters and on a simplified model of past population growth.the minimum number of mutations necessary to gener- The results for CFTR are compatible with those for PAHate the observed haplotypes. Login to comment