X连锁脑积水的遗传异质性：与Xq27.3内标记的连锁关系。
Genetic heterogeneity in X-linked hydrocephalus: linkage to markers within Xq27.3.
作者信息
Strain L, Gosden C M, Brock D J, Bonthron D T
机构信息
Human Genetics Unit, University of Edinburgh, Western General Hospital, UK.
出版信息
Am J Hum Genet. 1994 Feb;54(2):236-43.
Abstract
X-linked hydrocephalus is a well-defined disorder which accounts for > or = 7% of hydrocephalus in males. Pathologically, the condition is characterized by stenosis or obliteration of the aqueduct of Sylvius. Previous genetic linkage studies have suggested the likelihood of genetic homogeneity for this condition, with close linkage to the DXS52 and F8C markers in Xq28. We have investigated a family with typical X-linked aqueductal stenosis, in which no linkage to these markers was present. In this family, close linkage was established to the DXS548 and FRAXA loci in Xq27.3. Our findings demonstrate that X-linked aqueductal stenosis may result from mutations at two different loci on the X chromosome. Caution is indicated in using linkage for the prenatal diagnosis of X-linked hydrocephalus.
摘要
X连锁脑积水是一种明确的疾病，在男性脑积水中占比≥7%。病理上，该病的特征是中脑导水管狭窄或闭塞。先前的基因连锁研究表明，这种疾病具有基因同质性的可能性，与Xq28中的DXS52和F8C标记紧密连锁。我们研究了一个患有典型X连锁导水管狭窄的家系，其中不存在与这些标记的连锁关系。在这个家系中，与Xq27.3中的DXS548和FRAXA位点建立了紧密连锁。我们的研究结果表明，X连锁导水管狭窄可能由X染色体上两个不同位点的突变引起。在使用连锁分析进行X连锁脑积水的产前诊断时应谨慎。
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