Harley H G, Brook J D, Jackson C L, Glaser T, Walsh K V, Sarfarazi M, Kent R, Lager M, Koch M, Harper P S
Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, United Kingdom.
Genomics. 1988 Nov;3(4):380-4. doi: 10.1016/0888-7543(88)90131-0.
The gene coding for a Na+,K+-ATPase alpha subunit (ATP1A3) has been localized to the q12----q13.2 region of human chromosome 19, potentially close to the myotonic dystrophy (DM) gene. In view of previous studies implicating a Na+,K+-ATPase in the pathology of DM, we have examined the possibility that ATP1A3 is a candidate for the DM locus. Although linked, several clear instances of recombination between ATP1A3 and DM rule out the possibility that mutations in ATP1A3 cause the disease. Examination of multiply informative pedigrees indicates the gene order DM-APOC2-ATP1A3.
编码钠钾ATP酶α亚基（ATP1A3）的基因已被定位于人类19号染色体的q12至q13.2区域，可能靠近强直性肌营养不良（DM）基因。鉴于先前的研究表明钠钾ATP酶与DM的病理有关，我们研究了ATP1A3作为DM基因座候选基因的可能性。尽管存在连锁关系，但ATP1A3和DM之间有几例明确的重组情况排除了ATP1A3突变导致该疾病的可能性。对多个信息丰富的家系进行检查表明基因顺序为DM-APOC2-ATP1A3。
