Kajinami K, Mabuchi H, Inazu A, Fujita H, Koizumi J, Takeda R, Matsue T, Kibata M
Second Department, School of Medicine, Kanazawa University, Japan.
J Intern Med. 1990 Apr;227(4):247-51. doi: 10.1111/j.1365-2796.1990.tb00153.x.
Gene mutations at the low density lipoprotein (LDL) receptor locus were screened in 210 alleles of Japanese patients with familial hypercholesterolaemia (FH). In the present study, two types of novel mutation were identified by genomic Southern blotting using human LDL receptor cDNA probes. An approximately 12 kb deletion including exons 2 and 3 (and possibly 4) was identified in a patient (M.I.). The patient with this mutant gene will be referred to as 'FH-Kanazawa'. Two patients born in Okayama Prefecture in Japan had another unique 13 kb partial deletion, from exons 7 to 14, in their LDL receptor genes (FH-Okayama). This mutant allele is the first reported case in which the central portion of the LDL receptor gene, the epidermal growth factor (EGF) precursor homology region, is eliminated.
在210个日本家族性高胆固醇血症（FH）患者的等位基因中筛选低密度脂蛋白（LDL）受体基因座的基因突变。在本研究中，使用人LDL受体cDNA探针通过基因组Southern印迹鉴定出两种新型突变。在一名患者（M.I.）中鉴定出一个约12 kb的缺失，包括外显子2和3（可能还有4）。携带这种突变基因的患者将被称为“FH-金泽”。两名出生于日本冈山县的患者在其LDL受体基因中存在另一种独特的13 kb部分缺失，从外显子7至14（FH-冈山）。这种突变等位基因是首次报道的LDL受体基因中央部分即表皮生长因子（EGF）前体同源区域被消除的病例。
