Genome-wide screening of pathological myopia
Author(s): Yu Zhiqiang, Huang Chuanxin, Shen Zonghou, Huang Wei, Hu Danning, Chu Renyuan
Pages: 429-432
Year: 2006 Issue: 4
Journal: CHINESE OPHTHALMIC RESEARCH
Keyword: 病理性近视; 连锁分析; 遗传异质性;
Abstract: 目的 通过基因组扫描和家系连锁分析,对已知病理性近视相关位点进行筛查.方法 收集符合常染色体显性遗传的病理性近视家系,选取330对微卫星标记进行基因组扫描,在显性遗传模式、基因频率0.013 3和外显率100%的条件下,进行二点连锁分析和多点连锁分析.结果 连锁分析在9个家系中均未发现连锁位点.第12号染色体上LODs最大0.773 459,最小-8.121 303,第18号染色体上LODs最大0.559 933,最小-8.936 928,排除了与已知病理性近视基因位点MYP2和MYP3连锁.结论 我国病理性近视基因位点与国外报道不同,存在遗传异质性.病理性近视遗传模式可能不是单一的单基因常染色体显性遗传.
Pages: 429-432
Year: 2006 Issue: 4
Journal: CHINESE OPHTHALMIC RESEARCH
Keyword: 病理性近视; 连锁分析; 遗传异质性;
Abstract: 目的 通过基因组扫描和家系连锁分析,对已知病理性近视相关位点进行筛查.方法 收集符合常染色体显性遗传的病理性近视家系,选取330对微卫星标记进行基因组扫描,在显性遗传模式、基因频率0.013 3和外显率100%的条件下,进行二点连锁分析和多点连锁分析.结果 连锁分析在9个家系中均未发现连锁位点.第12号染色体上LODs最大0.773 459,最小-8.121 303,第18号染色体上LODs最大0.559 933,最小-8.936 928,排除了与已知病理性近视基因位点MYP2和MYP3连锁.结论 我国病理性近视基因位点与国外报道不同,存在遗传异质性.病理性近视遗传模式可能不是单一的单基因常染色体显性遗传.
Citations
- Evidence that a locus for familial high myopia maps to chromosome 18p Young TL American Journal of Hunan Genetics
- A second locus for familial high myopia maps to chromosome 12q Young TL American Journal of Hunan Genetics
- LO Ds past and present Morton NE Genetics
- 参数连锁分析方法 倪鹏生 遗传
- 非参数连锁分析 倪鹏生 遗传
- The Stickler syndrome:evidence for close linkage to the structural gene for type Ⅱ collagen Francomano CA Genomics
- A Stickler syndrome gene is linked to chromosome 6 near the COL11 A2 gene Brunner HG Human Molecular Genetics
- Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes Lee B Nature
- Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31 Sheffield VC Nature Genetics
- Marshall syndrome associated with a splicing defect at the COL11A1 locus Griffith AJ American Journal of Hunan Genetics
- A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21 q22.3 Sertie AL Human Molecular Genetics
- Familial high myopia:evidence of an autosomal dominant mode of inheritance and genetic heterogeneity Naiglin L Animal Genetics
- Familial high myopia linkage to chromosome 18 p Lam DS Ophthalmologica
- Genetic loci for pathological myopia are not associated with juvenile myopia Mutti DO American Journal of Medical Genetics(Neuropsychiatric Genetics)
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