人类14号染色体上的杂合性卟啉病（VP）基因与α-1-抗胰蛋白酶（PI）基因之间的连锁关系。
Linkage between the variegate porphyria (VP) and the alpha-1-antitrypsin (PI) genes on human chromosome 14.
作者信息
Bissbort S, Hitzeroth H W, du Wentzel D P, Van den Berg C W, Senff H, Wienker T F, Bender K
机构信息
Department of Chemical Pathology, Medical Faculty of Pretoria, Republic of South Africa.
出版信息
Hum Genet. 1988 Jul;79(3):289-90. doi: 10.1007/BF00366255.
From family studies close linkage between the gene locus for variegate porphyria (VP) and the alpha-1-antitrypsin (PI) gene became evident. The maximal lod score from male meioses was 4.33 at theta = 0.04 and from both sexes combined 3.56 at theta = 0.12. Three pedigrees were triple informative regarding loci VP, PI, and IGHC (immunoglobulin heavy chain cluster, Gm polymorphism). In two of the respective meioses recombinations were observed, and in both cases the co-segregating VP and PI alleles were separated from the Gm haplotypes. These findings argue in favour of gene order either VP:PI:IGHC or PI:VP:IGHC.
通过家系研究发现，杂色卟啉症（VP）的基因座与α-1-抗胰蛋白酶（PI）基因之间存在紧密连锁。男性减数分裂的最大连锁值在θ = 0.04时为4.33，男女合计在θ = 0.12时为3.56。三个家系对于VP、PI和IGHC（免疫球蛋白重链簇，Gm多态性）基因座具有三重信息性。在各自的两次减数分裂中观察到了重组，并且在这两种情况下，共同分离的VP和PI等位基因与Gm单倍型分离。这些发现支持基因顺序为VP:PI:IGHC或PI:VP:IGHC。
Zotero 插件