韦斯曼综合征，一种伴有智力障碍的人类X连锁隐性基底神经节疾病：定位于Xq27.3 - qter。
Waisman syndrome, a human X-linked recessive basal ganglia disorder with mental retardation: localization to Xq27.3-qter.
作者信息
Gregg R G, Metzenberg A B, Hogan K, Sekhon G, Laxova R
机构信息
Waisman Center for Mental Retardation and Human Development, University of Wisconsin-Madison 53706.
出版信息
Genomics. 1991 Apr;9(4):701-6. doi: 10.1016/0888-7543(91)90363-j.
Linkage of the gene responsible for an X-linked early onset parkinsonism disorder with mental retardation (McKusick 311510) to DNA probes that detect restriction fragment length polymorphisms is described. The disease gene is linked to the F8C gene, and to DNA probes detecting polymorphic loci DXS52, DXS15, DXS134, and DXS374 with maximum lod scores at theta = 0 of 5.08, 5.19, 5.00, 5.03, and 4.46, respectively. Multipoint linkage analysis gives a maximum multipoint lod score of 6.75 at the F8C gene. This places the disease gene in chromosomal region Xq27.3-qter.
本文描述了一种与智力迟钝相关的X连锁早发性帕金森病（McKusick 311510）致病基因与检测限制性片段长度多态性的DNA探针之间的连锁关系。该致病基因与F8C基因连锁，并且与检测多态性位点DXS52、DXS15、DXS134和DXS374的DNA探针连锁，在θ = 0时的最大lod分数分别为5.08、5.19、5.00、5.03和4.46。多点连锁分析在F8C基因处给出的最大多点lod分数为6.75。这将致病基因定位在染色体区域Xq27.3 - qter。
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