摘要
目的 定位 Ｓｍｉｔｈ Ｆｉｎｅｍ ａｎ Ｍｙｅｒｓ 综合征基因，为分离该基因奠定基础。方法 应用覆盖 Ｘ染色体全长的、具有多态性的短串联重复序列（ Ｓ Ｔ Ｒ） 对 Ｘ 染色体进行扫查，确定致病基因所在区域和与致病基因连锁的 Ｓ Ｔ Ｒ 位点，再对该位点两侧的 Ｓ Ｔ Ｒ 位点进行分析，确定致病基因的精确位置。结果 用２０个覆盖 Ｘ 染色体全长的、具有多态性的 Ｓ Ｔ Ｒ 位点对该综合征患者家系中的１３ 个能明确提供连锁分析信息的家系成员进行分析，发现位于 Ｘｑ２５ 上的 Ｄ Ｘ Ｓ１００１ 与致病基因紧密连锁，最大两点ｌｏｄｓ 得分为３０１（θ＝ ０） ，对 Ｄ Ｘ Ｓ１００１ 两侧的 Ｓ Ｔ Ｒ 分析证实，该致病基因位于 Ｄ Ｘ Ｓ１００１ 区域，单体型分析表明该致病基因位于 Ｄ Ｘ Ｓ８０６４ 和 Ｄ Ｘ Ｓ８０５０ 之间，区域为１４６ｃ Ｍ。结论 Ｓｍｉｔｈ Ｆｉｎｅｍ ａｎ Ｍｙｅｒｓ 综合征基因，位于 Ｘｑ２５ 上的 Ｄ Ｘ Ｓ８０６４ 和 Ｄ Ｘ Ｓ８０５０ 之间的１４６ｃ Ｍ 区域，该基因的定位为分离该基因奠定了基础。
Objective To map and eventually identify the gene responsible for Smith Fineman Myers syndrome.Methods 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.Results 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 θ=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 14.6 cM interval bounded by DXS8064 and DXS8050.Conclusion The gene responsible for Smith Fineman Myers syndrome is mapped to a 14.6 cM interval between DXS8064 and DXS8050 on Xq25.This result will be helpful for the indentification of disease gene.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
1999年第5期277-280,共4页
Chinese Journal of Medical Genetics
基金
国家自然科学基金
关键词
S-F-M综合征
智能低下
遗传病
Smith Fineman Myers syndrome Gene mapping Short tandem repeat markers Linkage analysis
