Watson M L, Wright A F, Macnicol A M, Allan P L, Clayton J F, Dempster M, Jeremiah S J, Corney G, Hopkinson D A
Department of Medicine, University of Edinburgh.
J Med Genet. 1987 Aug;24(8):457-61. doi: 10.1136/jmg.24.8.457.
Adult polycystic kidney disease (APKD) is a common genetic disorder that is inherited as an autosomal dominant trait. Recent reports show that, in some families, the APKD gene shows close genetic linkage to two chromosome 16 specific genetic markers. We have been conducting a genetic linkage study using 29 polymorphic isoenzyme and antigenic markers in 184 members of 12 APKD families. We present here the results of linkage analysis using three of these markers which have also been reported to be located on chromosome 16: phosphoglycolate phosphatase (PGP), glutamate pyruvate transaminase (GPT), and haptoglobin (HP). The results show that APKD is closely linked to the PGP locus on the short arm of chromosome 16 (16p13----p12), which is consistent with the previously reported linkage both to PGP and to the alpha globin locus. The genetic distance between PGP and APKD shows a maximum likelihood value of the recombination fraction at zero with a lod score of 5 X 5. There is no evidence of linkage between APKD and either GPT or HP. The PGP polymorphism potentially provides a useful predictive test to complement the use of alpha globin probes in genetic counselling. These tests should provide an efficient means of primary screening of family members at risk, as well as introducing the possibility of prenatal diagnosis.
成人多囊肾病（APKD）是一种常见的遗传性疾病，以常染色体显性特征遗传。最近的报告显示，在一些家族中，APKD基因与两个16号染色体特异性遗传标记显示出紧密的遗传连锁。我们一直在对12个APKD家族的184名成员使用29种多态同工酶和抗原标记进行遗传连锁研究。我们在此展示使用其中三个也被报道位于16号染色体上的标记进行连锁分析的结果：磷酸乙醇酸磷酸酶（PGP）、谷丙转氨酶（GPT）和触珠蛋白（HP）。结果显示，APKD与16号染色体短臂（16p13----p12）上的PGP基因座紧密连锁，这与先前报道的与PGP以及α珠蛋白基因座的连锁一致。PGP与APKD之间的遗传距离显示重组率的最大似然值为零，lod分数为5×5。没有证据表明APKD与GPT或HP之间存在连锁。PGP多态性可能提供一种有用的预测性检测，以补充在遗传咨询中使用α珠蛋白探针。这些检测应提供一种对有风险的家庭成员进行初步筛查的有效方法，同时也引入了产前诊断的可能性。
