视锥-视杆细胞视网膜营养不良与19号染色体q区的遗传连锁及分离畸变证据。

Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion.

作者信息

Evans K, Fryer A, Inglehearn C, Duvall-Young J, Whittaker J L, Gregory C Y, Butler R, Ebenezer N, Hunt D M, Bhattacharya S

机构信息

Department of Molecular Genetics, Institute of Ophthalmology, London, UK.

出版信息

Nat Genet. 1994 Feb;6(2):210-3. doi: 10.1038/ng0294-210.

DOI:10.1038/ng0294-210

PMID:8162077

Abstract

Inherited retinal dystrophies are the most common cause of childhood blindness in the developed world. Cone-rod retinal dystrophies are severe examples of this group of disorders. Analysis of a large cone-rod dystrophy pedigree suggested that inheritance within the family was influenced by meiotic drive (p = 0.008), a rare segregation distortion in human genetics. Two-point linkage analysis showed significant linkage with three markers mapping to chromosome 19q. Multipoint analysis gave a maximum lod score of 10.08 (theta = 0.05) distal to D19S47. Cone-rod dystrophy is therefore assigned to 19q13.1-q13.2 and a new candidate locus for other retinal dystrophies is identified.

摘要

在发达国家，遗传性视网膜营养不良是儿童失明的最常见原因。锥杆型视网膜营养不良是这类疾病中的严重病例。对一个大型锥杆型营养不良家系的分析表明，家族内的遗传受到减数分裂驱动的影响（p = 0.008），这是人类遗传学中一种罕见的分离畸变。两点连锁分析显示与位于19号染色体q区的三个标记有显著连锁。多点分析在D19S47远端给出了最大对数优势分数为10.08（θ = 0.05）。因此，锥杆型营养不良被定位到19q13.1 - q13.2，并且确定了其他视网膜营养不良的一个新候选基因座。