亨特综合征基因的更精确定位。
More precise localization of the gene for Hunter syndrome.
作者信息
Le Guern E, Couillin P, Oberlé I, Ravise N, Boue J
机构信息
U.73 (INSERM), Génétique et pathologie foetale, Paris, France.
出版信息
Genomics. 1990 Jul;7(3):358-62. doi: 10.1016/0888-7543(90)90169-u.
A linkage analysis between the Hunter syndrome locus (IDS) and four polymorphic loci of the Xq27-Xq28 region, DXS105, DXS98, DXS304, and DXS52, was performed in large families. A significant lod score was obtained between DXS304 and the Hunter gene (Zmax = 6.57 at theta max = 0.0). The Hunter gene can be localized within 7 cM of this marker. In addition, the translocation breakpoint of the Hunter female case described by J. Mossman et al. (1986, Arch. Dis. Child. 58: 911-915) was localized between DXS98 and DXS304 using somatic cell hybrids. These two results are in agreement and give the following order: DXS105-DXS98-IDS-DXS304-DXS52. Probes for these marker loci can thus be used for carrier detection.
在多个大家庭中对亨特综合征基因座（IDS）与Xq27 - Xq28区域的四个多态性基因座DXS105、DXS98、DXS304和DXS52进行了连锁分析。在DXS304与亨特基因之间获得了显著的对数优势分数（在θ最大值 = 0.0时，Z最大值 = 6.57）。亨特基因可定位在该标记的7厘摩范围内。此外，利用体细胞杂种，J. Mossman等人（1986年，《儿童疾病文献》58: 911 - 915）描述的亨特综合征女性病例的易位断点定位在DXS98和DXS304之间。这两个结果一致，得出以下顺序：DXS105 - DXS98 - IDS - DXS304 - DXS52。因此，这些标记基因座的探针可用于携带者检测。
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