LOCALIZATION OF THE EPM1 GENE FOR PROGRESSIVE MYOCLONUS EPILEPSY ON CHROMOSOME-21 - LINKAGE DISEQUILIBRIUM ALLOWS HIGH-RESOLUTION MAPPING

被引：145

作者：

LEHESJOKI, AE

KOSKINIEMI, M

NORIO, R

TIRRITO, S

SISTONEN, P

LANDER, E

DELACHAPELLE, A

机构：

[1] UNIV HELSINKI,DEPT VIROL,SF-00014 HELSINKI,FINLAND

[2] FOLKHALSAN INST GENET,SF-00250 HELSINKI,FINLAND

[3] FINNISH POPULAT & FAMILY WELF FEDERAT,DEPT MED GENET,SF-00100 HELSINKI,FINLAND

[4] FINNISH RED CROSS & BLOOD TRANSFUS SERV,BLOOD TRANSFUS SERV,SF-00310 HELSINKI,FINLAND

[5] WHITEHEAD INST BIOMED RES,CAMBRIDGE,MA 02142

[6] MIT,DEPT BIOL,CAMBRIDGE,MA 02139

来源：

HUMAN MOLECULAR GENETICS | 1993年 / 2卷 / 08期

基金：

芬兰科学院; 美国国家卫生研究院;

关键词：

D O I：

10.1093/hmg/2.8.1229

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

The gene for Progressive Myoclonus epilepsy of Unverricht-Lundborg type (EPM1) has previously been mapped by linkage to markers on chromosome 21q22.3. By analyzing crossover events in multiplex disease families with newly detected markers from the region we were able to narrow the localization of EPM1 to an interval of approximately 7 cM, between loci D21S212 and CD18. To further refine the localization of the EPM1 gene we applied linkage disequilibrium mapping in 38 Finnish families, consisting of 12 with multiple affected children and 26 with a single affected child. Based on existing knowledge about the structure and history of the isolated Finnish population, we estimated genetic distances based on strong linkage disequilibrium to several marker loci and found that EPM1 resides within 0.3 cM or less of loci PFKL, D21S25 and D21S154. As this genetic distance translates into a likely physical distance of 300 kb or less, these data provide a basis for highly focused attempts to clone EPM1.

引用

页码：1229 / 1234

页数：6

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