Parmentier L, Lakhdar H, Blanchet-Bardon C, Marchand S, Dubertret L, Weissenbach J
CNRS URA 1922, Généthon, Evry, France.
Hum Mol Genet. 1996 Apr;5(4):555-9. doi: 10.1093/hmg/5.4.555.
Lamellar ichthyosis (LI) is an inherited autosomal recessive disorder of cornification. It was recently demonstrated to result from deleterious mutations in the transglutaminase 1 (TGM1) gene. However, the disease was shown to be genetically heterogeneous, since some families were found to be unlinked to TGM1. Homozygosity mapping on three consanguinous families originating from Morocco shows (i) absence of linkage with TGM1 and other regions of the genome containing genes involved in cornification, and (ii) location of a second disease-causing gene on chromosome 2q33-35. A maximum two-point lodscore of 7.60 was obtained with D2S157 for theta = 0. The analysis of recombination events places the gene within a 7-8 cM interval. Additional consanguinous pedigrees were also demonstrated to be unlinked both to TGM1 and to 2q33-35, suggesting the existence of at least a third disease-causing gene.
板层状鱼鳞病（LI）是一种遗传性常染色体隐性角化障碍疾病。最近研究表明，它是由转谷氨酰胺酶1（TGM1）基因的有害突变引起的。然而，该疾病显示出遗传异质性，因为发现一些家族与TGM1没有连锁关系。对来自摩洛哥的三个近亲家庭进行纯合性定位分析显示：（i）与TGM1以及基因组中其他包含参与角化过程基因的区域不存在连锁关系；（ii）第二个致病基因位于2号染色体的2q33 - 35区域。在θ = 0时，与D2S157的最大两点连锁值为7.60。对重组事件的分析将该基因定位在7 - 8厘摩的区间内。另外的近亲家系也被证明与TGM1以及2q33 - 35均无连锁关系，这表明至少存在第三个致病基因。
