Reeders S T, Breuning M H, Corney G, Jeremiah S J, Meera Khan P, Davies K E, Hopkinson D A, Pearson P L, Weatherall D J
Br Med J (Clin Res Ed). 1986 Mar 29;292(6524):851-3. doi: 10.1136/bmj.292.6524.851.
The genetic locus for autosomal dominant adult polycystic kidney disease was recently assigned to chromosome 16 by the finding of genetic linkage to the alpha globin gene cluster. Further study showed that the phosphoglycolate phosphatase locus is also closely linked to both the locus for adult polycystic kidney disease and the alpha globin gene cluster. These findings have important implications for the prenatal and presymptomatic diagnosis of adult polycystic kidney disease and for a better understanding of its pathogenesis.
通过发现常染色体显性遗传性成人多囊肾病的基因位点与α珠蛋白基因簇存在遗传连锁关系,该基因位点最近被定位到16号染色体上。进一步研究表明,磷酸乙醇酸磷酸酶基因位点也与成人多囊肾病基因位点和α珠蛋白基因簇紧密连锁。这些发现对于成人多囊肾病的产前和症状前诊断以及更好地理解其发病机制具有重要意义。