成人型多囊肾病的基因诊断──PKD_1基因与其两侧四种基因探针的连锁分析

GENE DIAGNOSIS OF ADULT POLYCYSTIC KIDNEY DISEASE RFLP HAPLOTYPE ANALYSIS USING PROBES FLANKING BOTH5'AND 3'ENDS OF PKD1

采用位于α３′ＨＶＲ同侧与成人型多囊肾病基因（ＰＫＤ１）更加接近的ｐＧＧＧ１及另一侧的２４－１和２１８ＥＰ６等探针对正常人基因组ＤＮＡ进行限制性片段长度多态性（ＲＥＬＰ）分析，分别检测各等位片段的频率，在此基础上，应用这三个基因探针与３′ＨＶＲ一起对２个成人型多囊肾病家系成员进行单体型分析，在这２个家系中，５个ＡＰＫＤ患者的ＲＦＬＰ单体型被证明与ＰＫＤ１基因相连锁，发现一个重组体，并检测出二个症状前个体。

The probes 218EP6 and 24-1 on the centromeric side and pGGG1 on the telomeric side but closer to the PKD1 gene than3'HVR were used to determine the frequency of allelic fragments of each probe of the normal Chinese genomic DNA. These 3 probes and 3'HVR were together used to determine the RFLP haplotypes of various members of 2 APKD families;Five individuals in these 2 families were found to be affected.The RFLP haplotypes linked to the PKD1 gene in each family was determined. One recombinant was detected. Two presymptomatic individuals were identified.