Disease gene screening of known loci in a Chinese family with autosomal dominant retinitis pigmentosa / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 70-73, 2009.
Article
in Chinese
| WPRIM
| ID: wpr-287451
ABSTRACT
<p><b>OBJECTIVE</b>To map the disease-causing gene in a Chinese family with autosomal dominant retinitis pigmentosa.</p><p><b>METHODS</b>Twenty-seven micro-satellite markers were randomly selected from the region around the known loci of causative genes, and haplotypes were determined by ABI3100 genetic analyzer. Two-point linkage analysis was performed using MLINK.</p><p><b>RESULTS</b>The Lod score of each marker vs adRP was below 1.</p><p><b>CONCLUSION</b>The phenotype of this family may not be caused by mutation of the known disease-causing genes.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pathology
/
Pedigree
/
Phenotype
/
China
/
Retinitis Pigmentosa
/
Genetic Testing
/
Microsatellite Repeats
/
Asian People
/
Diagnosis
/
Genes, Dominant
Type of study:
Diagnostic study
/
Prognostic study
/
Screening study
Limits:
Female
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2009
Type:
Article
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