七个成人型多囊肾病家系基因的诊断

Gene Diagnosis of 7 APKD Families

应用ＰＫＤ１两侧四种探针（３’ＨＶＲ、ＰＧＧＧ１和另一侧的２４－１、２１８ＥＰ６），通过Ｓｏｕｔｈｅｒｎ印迹杂交、ＲＦＬＰ连锁分析，对成人型多囊肾病进行基因诊断的研究。在７个ＡＰＫＥ家系共４１个成员中，进行了基因单体型分析，１６个ＡＰＫＤ患者的ＲＦＬＰ单体型被证明与ＰＫＤ１基因相连锁，检测出６个症状前个体，发现２个重组体，结果表明用ＰＫＤ１两旁侧基因探针进行联合分析，可极有效地检出重组体，避免误诊，提高诊断的准确性。

Studies on gene diagnosis of adult polycystic kidney disease (APKD ) families was per- formed by Southern hybridization and RFLP link age analysis using 4 probes (flanking both the 5' and 3' ends of PKD1-3'HVR ,pGGG1 and another flanking 24-1 218EP6). The results of RFLP haplotype analysis were obtained from 41 family members of 7 APKD families. RFLP haplotypes of 16 affected APKD members were demonstrated to be linked to PKD 1 . 6 presymptom affected members were detected and two recombinats were found . these results showed that recombination occurred in the vicinity of the gene can be determined by above methods with a high degree of certainty.