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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。
The use of DNA diagnostic technology for normal and 16 cases of dwarfism patients with peripheral blood leukocyte DNA growth hormone gene cluster analysis, the first Chinese race found in 2 patients (siblings siblings) for the deletion, including hGH-N gene 7.1 kb DNA fragment homozygotes. The patient’s parents, grandmothers, and grandmothers were heterozygous for the deletion of the gene, but the phenotype was normal; the patient’s grandfather and grandfather were normal homozygotes, and the disease was autosomal recessive. No other hGH-N gene deletion was found in the other 14 patients. Analysis of the villus DNA showed that it is consistent with normal human leukocyte DNA. This method can be prenatal and prenatal diagnosis of eugenics, to avoid the homozygote missing hGH-N gene was born.