Evidence against close linkage to HLA of the gene for familial amyloid polyneuropathy.
Evidence against close linkage to HLA of the gene for familial amyloid polyneuropathy.
复制标题
反对家族性淀粉样多发性神经病基因与 HLA 密切相关的证据。
DOI：
10.1002/art.1780281019
复制
发表时间：
1985
影响因子：
--
通讯作者：
Glass,DN
中科院分区：
文献类型：
--
作者：
Sigsbee,A;Cohen,AS;Collins,L;Larson,M;Glass,DN
Figure 1. Members of 2 families who have familial arnyloid polyneuropathy. See Results for HLA haplotypes. either obtained locally or were the gifts of laboratories worldwide. Antisera tested in both the Eighth and Ninth Histocompatibility Workshops were included. Statistical methods. In light of previous reports (7, 8), we assumed that inheritance of FAP is autosomal dominant with complete penetrance of the disease gene, and that only 1 FAP gene entered each pedigree through the affected founder (a heterozygote for FAP gene), with all spouses being normal homozygotes. In each analysis, our approach was to test whether the data were statistically consistent with independent segregation of the FAP gene and HLA. In addition, the data were tested for consistency with a low recombination frequency.To estimate the recombination frequency, 6, between the FAP gene and the HLA region, we used maximum likelihood techniques for linkage analysis (13). It was appropriate to use linkage analysis here, because the mode of inheritance and degree of penetration were already established. We assumed that each admissable haplotype for an affected founder had equal probability of “carrying” the FAP gene, and for each putative assignment determined the corresponding number of HLA-FAP recombinations among the progeny. The probability of the progeny distribution was then the sum of weighted binomial probabilities (13) from each “assignment,” and the maximum likelihood estimate for 6 was that value which maximized the product of probabilities from each family.
