Di Natale P, Annella T, Daniele A, De Luca T, Morabito E, Pallini R, Rosario P, Spagnuolo G
Dipartimento di Biochimica e Biotecnologie Mediche, II Facoltà di Medicina e Chirurgia, Università degli Studi di Napoli Federico II, Naples, Italy.
J Inherit Metab Dis. 1993;16(2):473-83. doi: 10.1007/BF00710300.
We report the results over 15 years (1977-1991) for biochemical diagnoses of patients referred from throughout Italy and suspected of having a mucopolysaccharidosis. Of these, 147 patients were diagnosed as being homozygous or hemizygous for a specific lysosomal enzyme deficiency; 74 pregnancies at risk were monitored in their families; 76 heterozygote diagnoses were performed on their relatives, with a total of 48 positive diagnoses. We also report the analysis of genomic DNA from 11 unrelated Italian Hunter patients, using pc2S15 probe. DNA from two patients, digested with Pst-I, showed a variant pattern of hybridization caused by deletion or rearrangement of the gene.
我们报告了15年（1977 - 1991年）间，对来自意大利各地、疑似患有黏多糖贮积症患者进行生化诊断的结果。其中，147名患者被诊断为特定溶酶体酶缺乏的纯合子或半合子；对其家族中的74例高危妊娠进行了监测；对其亲属进行了76次杂合子诊断，共48例阳性诊断。我们还报告了使用pc2S15探针，对11名无亲缘关系的意大利亨特氏症患者的基因组DNA进行的分析。两名患者的DNA经Pst - I消化后，显示出由基因缺失或重排导致的杂交变异模式。
