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龚瑶琴 魏建军 邵常顺 郭亦寿 陈丙玺 郭辰虹 Matt Warman
【摘要】 目的 定位Smith-Fineman-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(STR)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STR位点，再对该位点两侧的STR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STR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DXS1001与致病基因紧密连锁，最大两点lods得分为3.01(θ＝0)，对DXS1001两侧的STR分析证实，该致病基因位于DXS1001区域，单体型分析表明该致病基因位于DXS8064和DXS8050之间，区域为14.6cM。结论 Smith-Fineman-Myers综合征基因，位于Xq25上的DXS8064和DXS8050之间的14.6cM区域，该基因的定位为分离该基因奠定了基础。
【关键词】 Smith-Fineman-Myers综合征 基因定位 短串联重复序列多态位点 连锁分析
Mapping the gene responsible for
Smith-Fineman-Myers syndrome to Xq25
GONG Yaoqin*, WEI Jianjun, SHAO Changshun, GUO Yishou,
CHEN Bingxi, GUO Chenhong, Matt Warman.
*Department of Medical Genetics, Shandong Medical University, Jinan,250012 P.R.China. E-mail:yaoqing @ hotmail.com
【Abstract】 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.ConclusionThe gene responsible for Smith-Fineman-Myers syndrome is mapped to a 14.6 cM interval between DXS8064 [1] [2] 下一页
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