正常人生长激素基因簇的结构分析及生长激素缺乏症的DNA诊断

被引：5

作者：

何友爱

陈诗书

王亚新

林性玉

王德芬

机构：

[1] 上海第二医科大学生化教研室医学分子生物学实验室

[2] 瑞金医院儿科研究生

[3] 导师

来源：

中华内分泌代谢杂志 | 1989年 / 01期

关键词：

侏儒; 单纯性生长激素缺乏症; 生长激素基因缺失;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

利用DNA诊断技术,对正常人及16例侏儒症患者外周血白细胞DNA生长激素基因簇进行分析,在中国人种中首次发现2例患者(系同胞姐妹)为缺失包括hGH-N基因在内的7.1kbDNA片段的纯合子。患者的双亲、祖母及外祖母为携带缺失基因的杂合子,但表型正常;患者的祖父及外祖父为正常的纯合子,此疾病为常染色体隐性遗传病。其他14例患者均未发现hGH-N基因的缺失。对绒毛DNA分析结果表明与正常人白细胞DNA是一致的。这一方法在优生学上可作产前及婚前诊断,避免hGH-N基因缺失的纯合子出生。

引用

页码：3 / 6+57

页数：5

共 10 条

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