一个包含 FEB1 的单倍型在一个哥伦比亚家族中与热性惊厥附加症的遗传癫痫分离。

Segregation of a haplotype encompassing FEB1 with genetic epilepsy with febrile seizures plus in a Colombian family.

机构信息

Mapeo Genetico.

出版信息

Epileptic Disord. 2013 Jun;15(2):128-31. doi: 10.1684/epd.2013.0570.

DOI:10.1684/epd.2013.0570

Abstract

Febrile seizures and epilepsy are believed to be linked and some forms of epilepsy are associated with a history of febrile seizures (FS). Linkage analysis to seven known loci for FS and/or genetic epilepsy with febrile seizures plus (GEFS plus) was performed in a small Colombian family. Short tandem repeat (STR) markers were genotyped and two-point linkage analysis and haplotype reconstruction were conducted. A maximum LOD score of 0.75 at marker D8S533 for FEB1 at a recombination fraction (θ) of 0 and a segregating haplotype were identified. FEB1 was the first locus to be associated with FS and this is the second report to describe this association. Two genes in this region, CRH and DEPDC2, are good putative candidate genes that may play a role in FS and/or GEFS plus.

摘要

热性惊厥和癫痫被认为有关联，某些形式的癫痫与热性惊厥病史有关（FS）。在一个小型哥伦比亚家庭中，对七个已知的 FS 或热性惊厥附加型癫痫（GEFS 附加型）的基因座进行了连锁分析。对短串联重复（STR）标记物进行了基因分型，并进行了两点连锁分析和单体型重建。在θ为 0 的情况下，标记物 D8S533 处的最大 LOD 分数为 0.75，鉴定出了分离单体型。FEB1 是与 FS 相关的第一个基因座，这是第二个描述这种关联的报告。该区域的两个基因，CRH 和 DEPDC2，是很好的候选基因，可能在 FS 和/或 GEFS 附加型中发挥作用。