Study on gene mapping of one Chinese benign familial infantile convulsions pedigree
- VernacularTitle:良性家族性婴儿惊厥疾病基因定位的初步研究
- Author:
Yanqun XIANG
;
Beisha TANG
;
Lu SHEN
- Publication Type:Journal Article
- Keywords:
Benign familial Infant, newborn;
Convulsions;
Epilepsy;
Chromosomes, human, pair
- From:
Chinese Journal of Neurology
2000;0(05):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To make the gene mapping of one Chinese benign familial infantile convulsion (BFIC )pedigree on chromosome 19q12 13 1 Methods Five microsatellite DNA markers (D19S49, D19S250, D19S414, D19S416, D19S245) were chosen to make haplotype and linkage analysis of this BFIC family Results Among the 3 markers D19S49,D19S416,D19S245, the maximum LODs was located on D19S416 When the recombinant rate was 0 3, the maximum LOD score was 0 52; when the recombinant rate was 0, the LOD score was ∞; when the recombinant rate was 0 1, the LOD score was less than 0 The D19S414 and D19S250 could not provide information Conclusion BFIC gene of the family was not linked between D19S49 and D19S245, which suggested that there was heterogeneity in BFIC
