IDENTIFICATION OF A SER857-ASN857 SUBSTITUTION IN DRK1 (KCNB1), POPULATION FREQUENCIES AND LACK OF ASSOCIATION TO THE LOW-VOLTAGE ALPHA-EEGTRAIT

Authors
MAZZANTI CM BERGEN A ENOCH MA MICHELINI S GOLDMAN D
Citation
Cm. Mazzanti et al., IDENTIFICATION OF A SER857-ASN857 SUBSTITUTION IN DRK1 (KCNB1), POPULATION FREQUENCIES AND LACK OF ASSOCIATION TO THE LOW-VOLTAGE ALPHA-EEGTRAIT, Human genetics, 98(2), 1996, pp. 134-137
Citations number
18
Categorie Soggetti
Genetics & Heredity
Journal title
Human genetics → ACNP
ISSN journal
03406717
Volume
98
Issue
2
Year of publication
1996
Pages
134 - 137
Database
ISI
SICI code
0340-6717(1996)98:2<134:IOASSI>2.0.ZU;2-F
Abstract
A nonconservative amino acid substitution (Ser857Asn) in the human del ayed-rectifier potassium channel DRK1 (KCNB1 locus), a candidate gene for the low voltage alpha electroencephalogram (EEG) trait locus (LVEE G1) at 20q13.2, and its frequency in ethnic population samples are des cribed. The frequency of Asn857 in seven different ethnic population s amples, totalling more than 1600 individuals, ranged from zero to grea ter than 3%. However, no association was found between Asn857 and the low voltage alpha EEG trait (LVA) in a population of 105 subjects asse ssed for the EEG, 24 of whom actually had LVA.