原发性红斑肢痛症一家系排除与2q24．1-32区间连锁分析  

Exclusion of Linkage Between a Family with Primary Erythermalgia and 2q24.1-32 Sector

作　　者：李琳[1] 张如旭[2] 孙贺东[2] 雷立芳[2] 袁毅[2] 潘乾[3] 夏昆[3] 胡正茂[3] 江泓[4] 唐北沙[4] 

机构地区：[1]湖南省人民医院,湖南长沙410005 [2]中南大学湘雅三医院神经内科,湖南长沙410013 [3]中国医学遗传学国家重点实验室,湖南长沙410008 [4]中南大学湘雅医院神经内科,湖南长沙410008

出　　处：《医学临床研究》2011年第8期1425-1427,共3页Journal of Clinical Research

基　　金：[基金项目]国家自然科学基金项目（No.：30671152）

摘　　要：【目的】研究原发性红斑肢痛症与2亏染色体长臂2q24．1-32区间的连锁情况。【方法】收集一个原发性红斑肢痛症家系成员的血样抽提DNA，选用2号染色体长臂2q24．1-32区间内7个微卫星标记对该家系成员进行基因扫描，并对基因分型结果进行连锁分析及单倍型分析。【结果】连锁分析所得两点LOD值结果（重组率0—0时）〈-2，单倍型分析发现该疾病表型与基因型不共分离。【结论】排除该家系与2号染色体体长臂2q24．1-32区间连锁，提示原发性红斑肢痛症具有遗传异质性。该家系可能有新的致病基因位点。[Objective] To investigate the linkage situation between primary erythermalgia and 2q24.1-32 sector on long arm of chromosome 2. [Methods] The blood samples of the numbers of a family with primary erythermalgia were collected to extract DNA. Seven microsatellite markers on 2q24.1-32 sector of long arm of chromosome 2 were selected for gene scanning of family members. The results of genotyping were used for linkage and haplotype analysis. [Results] The linkage analysis showed LOD value of two points（0= 0） was lower than -2. Haplotype analysis found that the phenotype of this disease was not separated from the genotype. [Conclusion]The linkage between a family with primary erythermalgia and 2q24.1-32 sector on long arm of chromosome 2 is excluded. It suggests that primary erythermalgia has genetic heterogeneity. New virulence gene locus in this family may be existed.

关 键 词：红斑/遗传学 肢痛症/遗传学 

分 类 号：R594.15[医药卫生—内科学]