Kasperczyk A, Mermer B A, Parkinson D R, Lonergan J A, Krontiris T G
Department of Medicine (Hematology/Oncology), New England Medical Center Hospitals, Boston, MA 02111.
Am J Hum Genet. 1989 Nov;45(5):689-96.
We have detected a 6-bp deletion in the untranslated first exon of a unique HRAS1 gene cloned from lymphocyte DNA of a familial melanoma patient. The deletion is without apparent functional consequence. Using an RNase protection assay, we have demonstrated the deletion in leukocyte DNAs of individuals unrelated to the patient. In these cases, the deletion marker is specifically associated with one class of common HRAS1 allele, thereby establishing the origin of the unique allele. We discuss the means by which DNA sequence heterogeneity at other loci may be rapidly analyzed.
我们在从一名家族性黑色素瘤患者的淋巴细胞DNA中克隆出的独特HRAS1基因的非翻译第一外显子中检测到一个6碱基对的缺失。该缺失没有明显的功能后果。使用核糖核酸酶保护试验，我们在与该患者无关的个体的白细胞DNA中证实了这种缺失。在这些病例中，缺失标记物与一类常见的HRAS1等位基因特异性相关，从而确定了这个独特等位基因的起源。我们讨论了可以快速分析其他基因座处DNA序列异质性的方法。
