Sauer S M, Phelan M C, Richer C L, Schwartz C E
Greenwood Genetic Center, Self Memorial Hospital, SC 29646.
Cytogenet Cell Genet. 1989;50(2-3):172-3. doi: 10.1159/000132753.
A woman with an abnormal karyotype, (46,X,der(X) (pter----q27::q27----q21), was analyzed using DNA probes in the region Xq27----qter. The results indicate that she is trisomic for the Factor IX locus, disomic for the locus DXS105 (cX55.7) and monosomic for the loci DXS98 (4D8), DXS52 (St14) and Factor VIII. This confirms the absence of the region Xq28 in the abnormal chromosome. Furthermore, the presence of only one copy of 4D8 and two copies of cX55.7 places the DXS98 locus distal to Factor IX and closer to the fragile X locus than DXS105.
一名核型异常(46,X,der(X)(pter----q27::q27----q21))的女性使用Xq27----qter区域的DNA探针进行了分析。结果表明,她在凝血因子IX基因座处为三体,在DXS105(cX55.7)基因座处为二体,而在DXS98(4D8)、DXS52(St14)和凝血因子VIII基因座处为单体。这证实了异常染色体中不存在Xq28区域。此外,4D8只有一个拷贝而cX55.7有两个拷贝,这表明DXS98基因座位于凝血因子IX的远端,且比DXS105更靠近脆性X基因座。