摘要
目的 研究与PKD2基因紧密连锁的3个微卫星DNA D4S1534、D4S1542、D4S423在上海地区汉族人群中的多态性,为常染色体显性遗传性多囊肾病的基因诊断奠定基础。方法 采用聚合酶链反应-毛细管电泳-基因扫描方法,对80名无亲缘关系的上海市汉族志愿者进行了上述3个微卫星DNA遗传多态性的分析。结果 在上述人群中,发现D4S1534、D4S1542和D4S423分别有9、4和12种等位基因片段,其长度分别在144～160 bp、211～217 bp和103～125 bp之间,杂合度和多态信息含量分别为0.862和0.849,0.462和0.448,0.900和0.898,其基因频率分布符合Hardy-Weinberg平衡。结论 D4S1534、D4S1542和D4S423在上海市汉族人群中具有较高的多态性,是理想的遗传标记,可用于常染色体显性遗传性多囊肾病的遗传异质性研究及分子诊断。
Objective To study the genetic polymorphism of three microsatellite DNA loci tightly linked to PKD2 in Han nationality in Shanghai. Methods DNA was extracted with phenol-chloroform from the blood samples from 80 unrelated volunteers of Han people in Shanghai, and amplified with PCR technique at three microsatellite DNA loci (D4S1534, D4S1542 and D4S423) . The PCR products were detected on capillary electrophoresis and analyzed by Genescan and Genotyper software. Results In Shanghai Hans, 9, 4 and 12 alleles were observed at D4S1534, D4S1542 and D4S423 loci, whose sizes were 144 ~ 160 bp, 211 ~217 bp , 103 ~ 125 bp and whose heterozygosities and polymorphic information content(PIC) were 0. 862 and 0. 849, 0. 462 and 0. 448, 0. 900 and 0. 898, respectively. The distribution of allele frequencies of three microsatellite DNA loci was consistent with the Hardy-Weinberg equilibrium. Conclusion Highly genetic polymorphism of D4S1534, D4S1542 and D4S423 can be observed in Chinese Han population of Shanghai, so these three microsatellite DNA loci are ideal genetic markers, which can be used to heterogeneity study and genetic diagnosis of ADPKD.
出处
《中华肾脏病杂志》
CAS
CSCD
北大核心
2003年第2期95-98,共4页
Chinese Journal of Nephrology
基金
国家自然科学基金(30170901)
全军"九五"医药卫生杰出人才基金(985006)
上海市卫生系统百名优秀学科带头人计划基金(97047)
