| Autor: |
Durner, Martina, Shinnar, Shlomo, Resor, Stanley R., Moshe, Solomon L., Rosenbaum, David, Cohen, Jeffrey, Harden, Cynthia, Kang, Harriet, Hertz, Sharon, Wallace, Sibylle, Luciano, Daniel, Ballaban-Gil, Karen |
| Zdroj: |
American Journal of Medical Genetics. Part A; 7 February 2000, Vol. 96 Issue: 1 p49-52, 4p |
| Abstrakt: |
Juvenile myoclonic epilepsy (JME) is a distinct epileptic syndrome with a complex mode of inheritance. Several studies found evidence for a locus involved in JME on chromosome 6 near the HLA region. Recently, Elmslie et al. [1997] reported evidence of linkage in JME to chromosome 15q14 assuming a recessive mode of inheritance with 50% penetrance and 65% linked families. The area on chromosome 15q14 encompasses the location of the gene for the α-7 subunit of the nicotinic acetylcholine receptor. This could fit the hypothesis that there are two interacting loci, one on chromosome 6 and on chromosome 15 or that there is genetic heterogeneity in JME. In an independent dataset of JME families, we tested for linkage to chromosome 15 but found little evidence for linkage. Moreover, families with more than one family member affected with JME provide a lodscore of 3.4 for the HLA-DR/DQ haplotype on chromosome 6. The lodscore for these same families on chromosome 15q14 is <−2 assuming homogeneity and the maximum lodscore is 0.2 assuming α = .25. Only one of these families has a negative lodscore on chromosome 6 and a positive lodscore of 0.5 on chromosome 15q14. Our results indicate that this possible gene on chromosome 15 plays at most a minor role in our JME families. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:4952, 2000. © 2000 Wiley-Liss, Inc. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
|
