Two genetic markers closely linked to adult polycystic kidney disease on chromosome 16.
Two genetic markers closely linked to adult polycystic kidney disease on chromosome 16.
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16 号染色体上的两个遗传标记与成人多囊肾病密切相关。
DOI：
10.1136/bmj.292.6524.851
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发表时间：
1986
期刊：
影响因子：
--
通讯作者：
D. Weatherall
中科院分区：
文献类型：
--
作者：
S. Reeders;M. Breuning;G. Corney;S. Jeremiah;P. Meera Khan;K. Davies;D. Hopkinson;P. Pearson;D. Weatherall
常染色体显性成人多囊肾病的遗传位点最近被分配到16号染色体的遗传连锁的α珠蛋白基因簇的发现。进一步的研究表明，磷酸乙醇酸磷酸酶位点也与成人多囊肾病和α珠蛋白基因簇的位点密切相关。这些发现对成人多囊肾病的产前和症状前诊断以及更好地了解其发病机制具有重要意义。
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.