Korge B P, Compton J G, Steinert P M, Mischke D
Skin Biology Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD 20892.
J Invest Dermatol. 1992 Dec;99(6):697-702. doi: 10.1111/1523-1747.ep12614149.
Two size variants of the type II human keratin 1 protein chain, termed 1a and 1b, have been described previously. Using amplification of genomic DNA by the polymerase chain reaction and sequence analysis we show here that the difference between these two alleles is due to a deletion of 21 bp in sequences encoding the V2 subdomain. This deletion corresponds to an entire glycine loop of seven amino acids. Pedigree analysis showed that the alleles are inherited as normal Mendelian traits. No additional alleles were detected in a survey of 88 alleles from 44 unrelated individuals, and the allelic frequency of 1a and 1b was 0.61 and 0.39. To determine the molecular basis of inherited dermatoses it is preferable to perform genetic linkage studies utilizing candidate genes directly as polymorphic markers. The PCR-based keratin 1 alleles characterized here, together with previously described PCR-based size variants in the keratin 10 gene, provide useful markers for the keratin clusters on chromosome 12 and 17, respectively.
先前已描述过II型人角蛋白1蛋白链的两种大小变体，分别称为1a和1b。我们通过聚合酶链反应扩增基因组DNA并进行序列分析，结果表明这两个等位基因之间的差异是由于编码V2亚结构域的序列中缺失了21个碱基对。这种缺失对应于一个由七个氨基酸组成的完整甘氨酸环。家系分析表明，这些等位基因作为正常孟德尔性状遗传。在对44个无关个体的88个等位基因进行的调查中未检测到其他等位基因，1a和1b的等位基因频率分别为0.61和0.39。为了确定遗传性皮肤病的分子基础，最好利用候选基因直接作为多态性标记进行遗传连锁研究。本文所表征的基于PCR的角蛋白1等位基因，与先前描述的基于PCR的角蛋白10基因大小变体一起，分别为12号和17号染色体上的角蛋白簇提供了有用的标记。
