Gong Y, Wei J, Shao C, Guo Y, Chen B, Guo C, Warman M
Department of Medical Genetics, Shandong Medical University, Jinan, Shandong, 250012 P.R. China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1999 Oct;16(5):277-80.
To map and eventually identify the gene responsible for Smith-Fineman-Myers syndrome.
The short tandem repeat markers(STRs) distributed on X chromosome at 8-10cM interval were used in the initial mapping to look for the candidate region for Smith-Fineman-Myers syndrome locus and the linked marker. The additional STRs flanking the linked marker were tested to confirm the candidate region and decide the interval of disease gene.
Thirteen DNA samples from a Chinese family with Smith-Fineman-Myers syndrome were genotyped using 20 polymorphic STRs which cover the whole X chromosome. Of 20 STRs, DXS1001 on Xq25 suggested linkage and yielded a lod score of 3.01 at straight theta = 0 additional STRs flanking DXS1001 were tested. Fourteen polymorphic STRs out of 27 confirmed that Smith-Fineman-Myers syndrome locus is linked to several markers on Xq25. Haplotype analysis placed the disease locus within a 14.6cM interval bounded by DXS8064 and DXS8050.
The gene responsible for Smith-Fineman-Myers syndrome is mapped to a 14.6cM interval between DXS8064 and DXS8050 on Xq25. This result will be helpful for the identification of disease gene.
定位并最终鉴定出导致史密斯-芬曼-迈尔斯综合征的基因。
最初的定位研究使用了以8 - 10厘摩（cM）间隔分布于X染色体上的短串联重复序列标记（STRs），以寻找史密斯-芬曼-迈尔斯综合征基因座的候选区域及连锁标记。对连锁标记侧翼的额外STRs进行检测，以确认候选区域并确定疾病基因的区间。
运用覆盖整个X染色体的20个多态性STRs对一个患史密斯-芬曼-迈尔斯综合征的中国家系的13份DNA样本进行基因分型。在20个STRs中，位于Xq25的DXS1001显示出连锁关系，在θ = 0时获得了3.01的连锁对数计分（lod score）。对DXS1001侧翼的额外STRs进行检测。27个STRs中的14个多态性STRs证实史密斯-芬曼-迈尔斯综合征基因座与Xq25上的几个标记连锁。单倍型分析将疾病基因座定位在由DXS8064和DXS8050界定的14.6厘摩区间内。
导致史密斯-芬曼-迈尔斯综合征的基因被定位到Xq25上DXS8064和DXS8050之间14.6厘摩的区间内。这一结果将有助于疾病基因的鉴定。
