艾伦 - 赫恩登综合征。二。与Xq21区域DNA标记的连锁关系。
Allan-Herndon syndrome. II. Linkage to DNA markers in Xq21.
作者信息
Schwartz C E, Ulmer J, Brown A, Pancoast I, Goodman H O, Stevenson R E
机构信息
Greenwood Genetic Center, SC 29646.
出版信息
Am J Hum Genet. 1990 Sep;47(3):454-8.
Abstract
The original family with the Allan-Herndon type of X-linked mental retardation has been investigated for linkage by using DNA probes spanning the length of the X chromosome. Available for study, over 3 generations, were 13 affected males, three obligate carriers, and three normal sons of the obligate carriers. Initial disease-to-marker analysis suggested linkage to three markers (DXYS2 [7b], DXS250 [GMGX22], and DXS3 [p19-2]) located in Xq21. All three exhibited the same maximum lod score of 2.3 at a maximum theta of .05. Multipoint analysis using LINKMAP and a set of four DNA markers (DXYS1-DXYS2-DXS3-DXS94) gave a multipoint lod score of 3.58 for a location of the Allan-Herndon syndrome near locus DXYS1 (pDP34). Therefore, our data indicate that the gene for the Allan-Herndon syndrome is likely located in Xq21.
摘要
通过使用跨越X染色体全长的DNA探针，对患有艾伦 - 赫恩登型X连锁智力障碍的原家族进行了连锁研究。在三代人中，可供研究的有13名患病男性、3名肯定携带者以及3名肯定携带者的正常儿子。最初的疾病与标记分析表明，与位于Xq21的三个标记（DXYS2 [7b]、DXS250 [GMGX22]和DXS3 [p19 - 2]）存在连锁关系。这三个标记在最大重组率为0.05时，均显示出相同的最大lod值2.3。使用LINKMAP和一组四个DNA标记（DXYS1 - DXYS2 - DXS3 - DXS94）进行多点分析，结果显示在DXYS1（pDP34）位点附近，艾伦 - 赫恩登综合征的多点lod值为3.58。因此，我们的数据表明，艾伦 - 赫恩登综合征的基因可能位于Xq21。
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