Bale S J, Russell L J, Lee M L, Compton J G, DiGiovanna J J
Genetic Studies Section/Laboratory of Skin Biology, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland 20892-2757, USA.
J Invest Dermatol. 1996 Dec;107(6):808-11. doi: 10.1111/1523-1747.ep12330566.
Congenital recessive ichthyosis has a broad range of clinical presentations, which may be considered a spectrum of phenotypes with classic lamellar ichthyosis at one pole and classic congenital ichthyosiform erythroderma at the other. The identification of mutations in the transglutaminase-1 gene as a cause of lamellar ichthyosis implicates transglutaminases in other congenital recessive ichthyoses. We investigated two multiplex families with clinical manifestations between the two poles for linkage to the transglutaminase-1 locus on chromosome 14. Strongly negative lod scores prompted a search for linkage to two other epidermally expressed transglutaminases, transglutaminase-2 and transglutaminase-3, on chromosome 20. No evidence for linkage was found. These data confirm the hypothesis that the congenital recessive ichthyoses are genetically heterogeneous and in two families exclude two other transglutaminases that could be considered as candidate loci for at least some of the nonlamellar recessive ichthyoses.
先天性隐性鱼鳞病有广泛的临床表现，可被视为一系列表型，一端为典型的板层状鱼鳞病，另一端为典型的先天性鱼鳞病样红皮病。转谷氨酰胺酶-1基因突变被鉴定为板层状鱼鳞病的病因，这表明转谷氨酰胺酶与其他先天性隐性鱼鳞病有关。我们研究了两个临床表现处于两极之间的多重家庭，以确定与14号染色体上转谷氨酰胺酶-1基因座的连锁关系。强烈的负对数优势分数促使我们寻找与20号染色体上另外两种表皮表达的转谷氨酰胺酶，即转谷氨酰胺酶-2和转谷氨酰胺酶-3的连锁关系。未发现连锁证据。这些数据证实了先天性隐性鱼鳞病在遗传上是异质性的这一假设，并且在两个家庭中排除了另外两种转谷氨酰胺酶，它们至少在某些非板层状隐性鱼鳞病中可被视为候选基因座。
