Joseph病黄氏家系患者的细胞遗传学研究

CYTOGENETIC STUDIES OF HUANG'S FAMILY WITH JOSEPH DISEASE

本文对Joseph病黄氏家系的系谱分析表明,该家系属常染色体显性遗传。对典型Joseph病患者及可疑者共6人作了外周血淋巴细胞染色体核型分析。其中病情严重者2人作了皮肤成纤维细胞离体培养及染色体核型分析。患者两种不同细胞的染色体均未见到异常,表明该病可能为基因型遗传病。

Detailed neurological examination in 27 patients from 5 generations of a large Huang' s family with Joseph disease revealed characteristic signs of bulging eyes, curly hair and wide metatarsus. The mode of inheritance was typical autosomal dominant. Peripheral blood lymphocytical chromosome G band karyotype was analysed for typical and suspicious 6 patients in Ⅳ and Ⅴ generation. In addition, chromosomes of fibroblast of skin cultures in vitro was analysed for 2 serious patients. Karyotype of all cell was normal. This result showed that Huang' s family with Joseph disease is genetic disease of gene type.