Haplotype analysis of two families with X-linked retinitis pigmentosa / 第三军医大学学报
Journal of Third Military Medical University
;
(24)2003.
Article
Dans Chinois
| WPRIM
| ID: wpr-558782
ABSTRACT
Objective To identify the disease locus in X-linked retinitis pigmentosa (RP) families using genetic linkage analysis. Methods Five microsatellite markers were selected from the RP2, RP3, RP6, RP23 and RP24 gene loci, respectively. Haplotype analysis for two X-linked RP families was performed to determine the critical region. Two-point linkage analysis was performed using MLINK program. Results In FYJ and ZCF X-linked RP families, the LOD score was 1.18 and 1.03 at DXS 993, 0.58 and -2.69 at DXS 1068, -2.33 and -2.45 at DXS 1214, -2.34 and -2.51 at DXS 8051, -2.23 and -2.62 at DXS 8043. Conclusion The phenotype of ZCF family is not caused by mutation of RP3, RP6, RP23, RP24 gene, and FYJ family may be linked to RP2 or RP3 gene.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Type d'étude:
Étude pronostique
langue:
Chinois
Texte intégral:
Journal of Third Military Medical University
Année:
2003
Type:
Article
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