中央轴空病基因定位于19号染色体。
Assignment of the gene for central core disease to chromosome 19.
作者信息
Haan E A, Freemantle C J, McCure J A, Friend K L, Mulley J C
机构信息
Department of Medical Genetics, Adelaide Children's Hospital, Australia.
出版信息
Hum Genet. 1990 Dec;86(2):187-90. doi: 10.1007/BF00197703.
PMID:2265831
Abstract
In a large kindred in which the gene for central core disease is segregating, we have demonstrated linkage between the disorder and a marker on chromosome 19q. Marker D19S9 (p1J2) was linked to central core disease with a lod score of 6.4 at theta = 0.03 (support interval 0.01-0.14) thus localizing the gene for this disorder in or very close to 19q12-q13.2.
摘要
在一个中央核心病基因正在分离的大型家系中，我们已经证明了该疾病与19号染色体q臂上的一个标记之间存在连锁关系。标记D19S9（p1J2）与中央核心病连锁，在θ = 0.03时lod分数为6.4（支持区间0.01 - 0.14），从而将该疾病的基因定位在19q12 - q13.2区域内或非常接近该区域。
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