Fine mapping of a pure paroxysmal kinesigenic dyskinesia family / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 1-5, 2009.
Article
in Zh
| WPRIM
| ID: wpr-307981
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To fine map the gene responsible for pure paroxysmal kinesigenic dyskinesia in a Chinese family.</p><p><b>METHODS</b>Six additional markers flanking the tightly linked markers were chosen in the candidate region resulting from a whole genome-wide scanning and tested by parameter and nonparameter analysis using Linkage and Genehunter softwares to fine map the candidate region.</p><p><b>RESULTS</b>Evidence for linkage of the pure paroxysmal kinesigenic dyskinesia to chromosome 3 was further confirmed. A maximum two-lod score of 2.82 at theta=0 was obtained with D3S3669. Critical recombinants place the PKD gene between D3S1314 and D3S1265.</p><p><b>CONCLUSION</b>A new locus of pure paroxysmal kinesigenic dyskinesia (PKD) is localized within a 10.2 cM interval on 3q28-29, between markers D3S1314 and D3S1265.</p>
Full text:
1
Index:
WPRIM
Main subject:
Pedigree
/
Haplotypes
/
Genetic Markers
/
Genome, Human
/
Chorea
/
Chromosome Mapping
/
Genomics
/
Asian People
/
Genetics
/
Genetic Linkage
Limits:
Adolescent
/
Child
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Child, preschool
/
Female
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Humans
/
Male
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2009
Type:
Article