Exclusion of chromosome 1q21-q31 from linkage to three pedigrees affected by the pigment-dispersion syndrome.
作者信息
Paglinauan C, Haines J L, Del Bono E A, Schuman J, Stawski S, Wiggs J L
出版信息
Am J Hum Genet. 1995 May;56(5):1240-3.
Abstract
摘要
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Exclusion of chromosome 1q21-q31 from linkage to three pedigrees affected by the pigment-dispersion syndrome.色素性分散综合征所累及的三个家系中，排除1q21 - q31染色体的连锁关系。
Am J Hum Genet. 1995 May;56(5):1240-3.
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Clinical features of five pedigrees genetically linked to the juvenile glaucoma locus on chromosome 1q21-q31.与1号染色体1q21-q31上青少年型青光眼基因座存在遗传连锁关系的五个家系的临床特征
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Exclusion of one pedigree affected by adult onset primary open angle glaucoma from linkage to the juvenile glaucoma locus on chromosome 1q21-q31.排除一个受成人型原发性开角型青光眼影响的家系与1号染色体1q21 - q31上青少年青光眼基因座的连锁关系。
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[Linkage between juvenile glaucoma and chromosome 1q in 2 French families].[两个法国家族中青少年型青光眼与1号染色体的连锁关系]
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A gene responsible for the pigment dispersion syndrome maps to chromosome 7q35-q36.一种导致色素播散综合征的基因定位于7号染色体的q35-q36区域。
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Confirmation of linkage to 1q21-31 in a Danish autosomal dominant juvenile-onset glaucoma family and evidence of genetic heterogeneity.在一个丹麦常染色体显性青少年型青光眼家族中确认与1q21 - 31的连锁关系及遗传异质性证据。
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Gene therapy in glaucoma-part 2: Genetic etiology and gene mapping.青光眼的基因治疗——第2部分：遗传病因与基因定位。
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The genetics of primary open angle glaucoma.原发性开角型青光眼的遗传学
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本文引用的文献
1
Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31.家族性开角型青光眼与1号染色体1q21-q31区域的遗传连锁。
Nat Genet. 1993 May;4(1):47-50. doi: 10.1038/ng0593-47.
2
Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene.由RDS基因第167密码子点突变引起的黄斑部蝶形色素营养不良。
Nat Genet. 1993 Mar;3(3):202-7. doi: 10.1038/ng0393-202.
3
Clinical features and linkage analysis of a family with autosomal dominant juvenile glaucoma.一个常染色体显性遗传性青少年型青光眼家族的临床特征及连锁分析
Ophthalmology. 1993 Apr;100(4):524-9. doi: 10.1016/s0161-6420(13)31615-7.
4
Mapping of a gene for autosomal dominant juvenile-onset open-angle glaucoma to chromosome Iq.常染色体显性青少年型开角型青光眼基因定位于1号染色体长臂。
Am J Hum Genet. 1994 Jan;54(1):62-70.
5
Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly.在包括彼得斯异常在内的多种眼前节畸形中发现了PAX6基因座的突变。
Nat Genet. 1994 Feb;6(2):168-73. doi: 10.1038/ng0294-168.
6
Genetic linkage of autosomal dominant juvenile glaucoma to 1q21-q31 in three affected pedigrees.三个患病家系中常染色体显性遗传性青少年青光眼与1q21-q31的基因连锁关系。
Genomics. 1994 May 15;21(2):299-303. doi: 10.1006/geno.1994.1269.
7
The 1993-94 Généthon human genetic linkage map.1993 - 1994年热那亚人类遗传连锁图谱。
Nat Genet. 1994 Jun;7(2 Spec No):246-339. doi: 10.1038/ng0694supp-246.
8
Pigment dispersion syndrome: a clinical study.色素播散综合征：一项临床研究。
Br J Ophthalmol. 1981 Apr;65(4):264-9. doi: 10.1136/bjo.65.4.264.
9
Asymmetric pigment dispersion syndrome.非对称性色素播散综合征
Trans Am Ophthalmol Soc. 1983;81:310-24.
10
Easy calculations of lod scores and genetic risks on small computers.在小型计算机上轻松计算连锁分析计分和遗传风险。
Am J Hum Genet. 1984 Mar;36(2):460-5.
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