Fragile X syndrome: genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site.
Fragile X syndrome: genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site.
复制标题
脆性 X 综合征：通过紧邻脆性位点两侧的两个微卫星重复 FRAXAC1 和 FRAXAC2 的连锁图谱进行遗传定位。
DOI：
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发表时间：
1991
影响因子：
4
通讯作者：
Grant R. Sutherland
中科院分区：
文献类型：
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作者：
Robert I. Richards;K. Holman;H. Kozman;E. Kremer;M. Lynch;M. Pritchard;S. Yu;J. C. Mulley;Grant R. Sutherland
我们报告了与脆性 X 综合征相关的 Xq27.3 脆性位点的遗传定位。使用两个多态性微卫星AC重复标记FRAXAC1和FRAXAC2确定多点连锁图中脆弱位点的位置。这些标记物理上位于 10 KB 以内，位于负责脆弱位点的 p(CCG)n 重复序列的两侧。 FRAXAC1有5个等位基因，杂合度为44%，与FRAXAC2有很强的连锁不平衡，FRAXAC2有8个等位基因，杂合度为71%。在 40 个正常 CEPH 家系中的这些标记之间或与受影响家系中的脆弱 X 之间均未观察到重组。这些标记提供了通过快速聚合酶链反应分析准确诊断家系中脆弱X基因型的方法，并用于将X染色体多点图谱中的脆弱X定位到距离DXS297远端3.7cM和距离DXS296近端1.2cM的位置。
We report the genetic localisation of the fragile site at Xq27.3 associated with fragile X syndrome. The position of the fragile site within the multipoint linkage map was determined using two polymorphic microsatellite AC repeat markers FRAXAC1 and FRAXAC2. These markers were physically located within 10 kilobases and on either side of the p(CCG)n repeat responsible for the fragile site. FRAXAC1 has five alleles with heterozygosity of 44% and is in strong linkage disequilibrium with FRAXAC2 which has eight alleles and a heterozygosity of 71%. No recombination was observed either between these markers in 40 normal CEPH pedigrees or with the fragile X in affected pedigrees. These markers provide the means for accurate diagnosis of the fragile X genotype in families by rapid polymerase chain reaction analysis and were used to position the fragile X within the multipoint map of the X chromosome to a position 3.7 cM distal to DXS297 and 1.2 cM proximal to DXS296.