Kolodny E H
Am J Ment Defic. 1984 Mar;88(5):582-9.
Many of the known gene defects result in inborn errors of metabolism that produce irreversible damage to the central nervous system. A variety of new clinical, morphologic, biochemical, and genetic techniques are being used to characterize these disorders more precisely. At the Shriver Center, the different genotypes of GM2-gangliosidosis are distinguished according to the ability of cells in culture to metabolize radioactively-labeled GM2-ganglioside. Large-scale screening for carriers of the trait for Tay-Sachs disease, the most common of the GM2-gangliosidoses, has dramatically reduced the incidence of this disease. Current efforts to isolate the genes for the alpha and beta chains of hexosaminidase A will lay the groundwork for better understanding of the molecular defects in these diseases and offers hope for a possible treatment.
许多已知的基因缺陷会导致先天性代谢紊乱，对中枢神经系统造成不可逆的损害。目前正在使用各种新的临床、形态学、生物化学和遗传学技术来更精确地描述这些疾病。在施赖弗中心，根据培养细胞代谢放射性标记的GM2神经节苷脂的能力，区分GM2神经节苷脂沉积症的不同基因型。对最常见的GM2神经节苷脂沉积症——泰-萨克斯病的性状携带者进行大规模筛查，已显著降低了该病的发病率。目前分离己糖胺酶A的α和β链基因的努力，将为更好地理解这些疾病的分子缺陷奠定基础，并为可能的治疗带来希望。
