Linkage analysis of one family with autosomal dominant high myopia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 424-426, 2008.
Article
em Zh
| WPRIM
| ID: wpr-308048
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To map the high myopia gene in a Chinese family with autosomal dominant high myopia.</p><p><b>METHODS</b>A family with autosomal dominant high myopia in three generations was collected. Eighteen short-tandem-repeat markers on previously reported loci linked to high myopia were chosen for genotyping and two-point linkage analysis was carried out.</p><p><b>RESULTS</b>The spherical equivalent of affected individuals ranges from -6.00D to -20.00D and the genetic pattern is autosomal dominant. The LOD score was less than -1 in all 18 microsatellite markers, indicating that there was no linkage between these markers and the high myopia related genes in this family.</p><p><b>CONCLUSION</b>A novel myopia locus for high-grade myopia may exist in the kindred. Genome-wide scan will be needed to determine this novel locus.</p>
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Linhagem
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Fisiologia
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Refração Ocular
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Repetições de Microssatélites
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Polimorfismo de Nucleotídeo Único
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Genética
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Ligação Genética
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Escore Lod
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Miopia
Limite:
Adolescent
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Adult
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Aged
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Aged80
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Female
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Humans
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Male
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2008
Tipo de documento:
Article