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成人型多囊肾病(简称APKD),是一种常染色体显性遗传病,其基因(PKD_1)定位于16号染色体短臂上,尚未分离获得。目前主要通过家系中限制性片段长度多态性(RFLP)的连锁分析进行基因诊断.24-1(D16S80)位于PKD_1的旁侧。与α3’HVR相对。本实验用24-1探针对正常个体进行RFLP连锁分析,观察24-1探针在中国人群中的多态性特点。 24-1探针为单拷贝序列,长1.2kb,国外资料报道人基因组DNA用Tag Ⅰ酶解,经24-1探针、杂交得到3种等位片段类型:B1(3.8kb)、B2(1.5kb+1.3kb)、B3(1.5kb),其频率分别为0.08、0.13、0.07,多态性信息量(PIC)为0.31。对中国北方人群53位无亲缘关系的正常个体(共106条染
Adult polycystic kidney disease (APKD) is an autosomal dominant genetic disease whose gene (PKD_1) is located on the short arm of chromosome 16 and has not been isolated. At present, genetic diagnosis is mainly carried out by linkage analysis of restriction fragment length polymorphism (RFLP) in the pedigrees .24-1 (D16S80) is located beside PKD_1. As opposed to α3’HVR. In this experiment, RFLP linkage analysis was performed on normal individuals with 24-1 probe to observe the characteristics of 24-1 probe polymorphism in Chinese population. The 24-1 probe is a single copy sequence with a length of 1.2kb. According to the foreign data, human genomic DNA was digested with Tag I and three allelic fragments were obtained by 24-1 probe: B1 (3.8kb), B2 ( 1.5kb + 1.3kb) and B3 (1.5kb), the frequencies were 0.08, 0.13 and 0.07, respectively. The polymorphism information amount (PIC) was 0.31. Fifty-three unrelated, normal individuals in northern China (106 total)