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.
Artigo
em Chinês
| 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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Tipo de estudo:
Estudo prognóstico
Idioma:
Chinês
Revista:
Journal of Third Military Medical University
Ano de publicação:
2003
Tipo de documento:
Artigo
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