对两个患有X连锁脊椎骨骺发育不良的加拿大家庭进行连锁分析。
Linkage analysis of two Canadian families segregating for X linked spondyloepiphyseal dysplasia.
作者信息
Bernard L E, Chitayat D, Weksberg R, Van Allen M I, Langlois S
机构信息
Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
出版信息
J Med Genet. 1996 May;33(5):432-4. doi: 10.1136/jmg.33.5.432.
X linked spondyloepiphyseal dysplasia (SED) is caused by a growth defect of the vertebral bodies leading to characteristic changes in the vertebral bodies and a short trunk. The gene responsible for this disorder has previously been mapped to Xp22, with a maximum likelihood location between markers DXS16 and DXS92. We present linkage data using microsatellite markers on two Canadian X linked SED families, one of Norwegian descent and the other from Great Britain. In the Xp22 region, three recombination events have occurred in these families, two between markers DXS996 and DXS1043 and one between DXS999 and DXS989. One family shows a maximal lod score of 3.0 at theta = 0 with marker DXS1043 and the other family has a maximal lod score of 1.2 at theta = 0 with markers DXS1224 and DXS418. Both families therefore support the previously reported gene localisation.
X连锁脊椎骨骺发育不良（SED）是由椎体生长缺陷引起的，导致椎体出现特征性变化和躯干短小。此前已将导致这种疾病的基因定位到Xp22，最大可能位置在标记DXS16和DXS92之间。我们使用微卫星标记展示了两个加拿大X连锁SED家族的连锁数据，一个家族有挪威血统，另一个来自英国。在Xp22区域，这些家族中发生了三次重组事件，两次发生在标记DXS996和DXS1043之间，一次发生在DXS999和DXS989之间。一个家族在θ = 0时与标记DXS1043的最大对数优势得分为3.0，另一个家族在θ = 0时与标记DXS1224和DXS418的最大对数优势得分为1.2。因此，两个家族都支持先前报道的基因定位。
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