12号染色体长臂2区的易位确定了包含霍尔特-奥拉姆综合征1基因的区间。
A translocation at 12q2 refines the interval containing the Holt-Oram syndrome 1 gene.
作者信息
Terrett J A, Newbury-Ecob R, Smith N M, Li Q Y, Garrett C, Cox P, Bonnet D, Lyonnet S, Munnich A, Buckler A J, Brook J D
机构信息
Department of Genetics, University of Nottingham, Queen's Medical Centre, United Kingdom.
出版信息
Am J Hum Genet. 1996 Dec;59(6):1337-41.
A gene for Holt-Oram syndrome (HOS) has been previously mapped to chromosome 12q2 and designated HOS1. We have identified a HOS patient with a de novo chromosomal rearrangement involving 12q. Detailed cytogenetic analysis of this case reveals three breaks on 12q, and two of these are within the HOS1 interval. By using a combination of chromosome painting and FISH with YACs and cosmids, it has been possible to map these breakpoints within the critical HOS1 interval and thus provide a focus for HOS gene-identification efforts.
霍尔特-奥拉姆综合征（HOS）的一个基因先前已被定位到12号染色体长臂2区，并命名为HOS1。我们鉴定出一名患有涉及12号染色体q臂的新生染色体重排的HOS患者。对该病例进行的详细细胞遗传学分析显示，12号染色体q臂上有三个断裂点，其中两个在HOS1区间内。通过结合染色体描绘以及使用酵母人工染色体（YAC）和黏粒进行荧光原位杂交（FISH），已能够将这些断裂点定位在关键的HOS1区间内，从而为HOS基因鉴定工作提供了一个重点研究方向。
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