Pignatelli P M, Pound S E, Carothers A D, Macnicol A M, Allan P L, Watson M L, Wright A F
MRC Human Genetics Unit, Western General Hospital, Edinburgh.
J Med Genet. 1992 Sep;29(9):638-41. doi: 10.1136/jmg.29.9.638.
Analysis of genetic linkage data in 33 adult onset polycystic kidney (ADPKD) families was carried out using probes for the D16S85, D16S84, and D16S94 loci. The data set of 33 families shows no evidence of genetic heterogeneity since one unlinked family was previously excluded. Two point linkage analysis showed maximum likelihood values of the recombination fraction of 0.07 for ADPKD and D16S85 (lod score 18.78), 0.02 for ADPKD and D16S84 (lod score 7.55), and 0.00 for ADPKD and D16S94 (lod score 6.73). Multipoint analysis showed a maximum likelihood order of tel-D16S85-0.06-D16S84-0.02-(PKD1, D16S94)-cen with a multipoint lod score of 32.16. Analysis of rare recombinants lying close to PKD1 gave results consistent with this order.
利用针对D16S85、D16S84和D16S94基因座的探针，对33个成人多囊肾（ADPKD）家系的遗传连锁数据进行了分析。由于之前已排除一个不连锁的家系，这33个家系的数据集未显示出遗传异质性的证据。两点连锁分析显示，ADPKD与D16S85的重组率最大似然值为0.07（优势对数分数为18.78），ADPKD与D16S84的重组率为0.02（优势对数分数为7.55），ADPKD与D16S94的重组率为0.00（优势对数分数为6.73）。多点分析显示，最大似然顺序为端粒-D16S85-0.06-D16S84-0.02-（PKD1，D16S94）-着丝粒，多点优势对数分数为32.16。对靠近PKD1的罕见重组体的分析结果与此顺序一致。
