PME OF UNVERRICHT-LUNDBORG TYPE IN THE MEDITERRANEAN REGION - LINKAGE AND LINKAGE DISEQUILIBRIUM CONFIRM THE ASSIGNMENT TO THE EPM1 LOCUS

被引：17
|
作者：
LEHESJOKI, AE
TASSINARI, CA
AVANZINI, G
MICHELUCCI, R
FRANCESCHETTI, S
ANTONELLI, A
RUBBOLI, G
DELACHAPELLE, A
机构：
[1] FOLKHALSAN INST GENET, SF-00250 HELSINKI, FINLAND
[2] UNIV BOLOGNA, BELLARIS HOSP, DEPT NEUROL, I-40139 BOLOGNA, ITALY
[3] IST NEUROCHIRURG C BESTA, DEPT NEUROPHYSIOL, I-20133 MILAN, ITALY
[4] IST NEUROCHIRURG C BESTA, DEPT GENET, I-20133 MILAN, ITALY
来源：
HUMAN GENETICS | 1994年 / 93卷 / 06期
关键词：
D O I：
10.1007/BF00201568
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Seven phenotypically homogeneous Mediterranean myoclonus families were studied using DNA markers from the genetically defined EPM1 region on chromosome 21. No recombinations between the disease phenotype and the markers studied were detected. Within the EPM1 region, the highest led score value of 5.07 (at Theta=0.00) was reached at locus PFKL. Significant allelic association (P=0.02) between the disease mutation and PFKL was detected suggesting a founder effect in Mediterranean myoclonus. However, haplotype data using four marker loci residing within 300kb of each other and of EPM1 suggest the occurrence of more than one mutation. The data are compatible with Mediterranean myoclonus being caused by mutations in the EPM1 gene and strengthen the concept that a large subset of progressive myoclonus epilepsies conforms with Unverricht-Lundborg disease and that this subset is an etiologically homogeneous entity.
引用
收藏
页码：668 / 674
页数：7
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