A locus for juvenile myoclonic epilepsy maps to 2q33–q36
| Autor: | Kurupath Radhakrishnan, Jayaram S. Kadandale, Rinki Ratnapriya, Anuranjan Anand, Joseph Vijai, Rajesh Shankar Iyer |
|---|---|
| Rok vydání: | 2010 |
| Předmět: |
Genetics
Candidate gene Genetic Linkage Myoclonic Epilepsy Juvenile Haplotype Brain Locus (genetics) Biology medicine.disease Genes Haplotypes Gene mapping Genetic linkage Chromosomal region medicine Humans Myoclonic epilepsy Lod Score Juvenile myoclonic epilepsy Cation Transport Proteins Genetics (clinical) |
| Zdroj: | Human Genetics. 128:123-130 |
| ISSN: | 1432-1203 0340-6717 |
| DOI: | 10.1007/s00439-010-0831-6 |
| Popis: | We performed a whole genome linkage analysis in a three-generation south Indian family with multiple members affected with juvenile myoclonic epilepsy (JME). The maximum two-point LOD score obtained was 3.32 at recombination fraction (theta) = 0 for D2S2248. The highest multipoint score of 3.59 was observed for the genomic interval between D2S2322 and D2S2228 at the chromosomal region 2q33-q36. Proximal and distal boundaries of the critical genetic interval were defined by D2S116 and D2S2390, respectively. A 24-Mb haplotype was found to co-segregate with JME in the family. While any potentially causative variant in the functional candidate genes, SLC4A3, SLC23A3, SLC11A1 and KCNE4, was not detected, we propose to examine brain-expressed NRP2, MAP2, PAX3, GPR1, TNS1 and DNPEP, and other such positional candidate genes to identify the disease-causing gene for the disorder. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full text from SpringerLink