O'Reilly M A, Sweatman A K, Bradley L D, Alterman L A, Lovering R, Malcolm S, Levinsky R J, Kinnon C
Molecular Immunology Unit, Institute of Child Health, London, UK.
Hum Genet. 1993 Jul;91(6):605-8. doi: 10.1007/BF00205088.
The X-linked agammaglobulinaemia (XLA) gene locus has previously been mapped to Xq22 in genetic linkage studies. The DXS101 locus has shown no recombinations with XLA in the ten informative meioses investigated so far. The DXS101 sequence, recognised by the cX52.5 plasmid, is moderately repeated in Xq22. We have isolated cosmids which contain this sequence; two copies of which have been found to lie near DXS178 and XLA, and a third copy which lies near the PLP gene, distal to these loci. We have used the cosmids to generate probes which should be of use for RFLP analysis, and thus in both prenatal diagnosis and carrier testing for XLA, and in constructing a genetic map of this region. These probes will also be used to complement the genetic map in the construction of a complete physical map of Xq22.
在遗传连锁研究中，X连锁无丙种球蛋白血症（XLA）基因位点先前已被定位到Xq22。在迄今为止所研究的10个信息性减数分裂中，DXS101位点与XLA未出现重组。由cX52.5质粒识别的DXS101序列在Xq22中呈中度重复。我们已分离出包含该序列的黏粒；其中两个拷贝位于DXS178和XLA附近，第三个拷贝位于这些位点远端的PLP基因附近。我们已利用这些黏粒制备了可用于限制性片段长度多态性（RFLP）分析的探针，从而用于XLA的产前诊断和携带者检测，以及构建该区域的遗传图谱。这些探针还将用于在构建Xq22完整物理图谱时补充遗传图谱。
