Mapping the X-linked lymphoproliferative syndrome.
Mapping the X-linked lymphoproliferative syndrome.
复制标题
绘制 X 连锁淋巴增殖综合征图谱。
DOI：
10.1073/pnas.84.7.2015
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发表时间：
1987
影响因子：
11.1
通讯作者：
Sullivan,JL
中科院分区：
文献类型：
--
作者：
Skare,JC;Milunsky,A;Byron,KS;Sullivan,JL
X连锁淋巴增殖性综合征是由Epstein-Barr病毒感染引发的，导致致命性单核细胞增多症、免疫缺陷和淋巴增生性疾病。这项研究表明，X连锁淋巴增殖性综合征的突变与DXS42探针(来自Xq24-Q27)检测到的限制性片段长度多态有关。基因座之间最有可能的重组频率为4%，相关的对数为5.26。利用侧翼限制性片段长度多态标记进行单倍型分析表明，X连锁淋巴增殖性综合征的基因座位于探针DXS42的远端，但在探针DXS99的近端(来自Xq26-Q27)。现在有可能预测X连锁淋巴增生性综合征家族中哪些成员是女性携带者，并在产前诊断该综合征。
The X-linked lymphoproliferative syndrome is triggered by Epstein-Barr virus infection and results in fatal mononucleosis, immunodeficiency, and lymphoproliferative disorders. This study shows that the mutation responsible for X-linked lymphoproliferative syndrome is genetically linked to a restriction fragment length polymorphism detected with the DXS42 probe (from Xq24-q27). The most likely recombination frequency between the loci is 4%, and the associated logarithm of the odds is 5.26. Haplotype analysis using flanking restriction fragment length polymorphism markers indicates that the locus for X-linked lymphoproliferative syndrome is distal to probe DXS42 but proximal to probe DXS99 (from Xq26-q27). It is now possible to predict which members of a family with X-linked lymphoproliferative syndrome are carrier females and to diagnose the syndrome prenatally.