纯合子定位和连锁分析表明，常染色体隐性先天性遗传性内皮营养不良（CHED）和常染色体显性CHED在遗传上是不同的。
Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct.
作者信息
Callaghan M, Hand C K, Kennedy S M, FitzSimon J S, Collum L M, Parfrey N A
机构信息
Department of Pathology, University College Dublin, Ireland.
出版信息
Br J Ophthalmol. 1999 Jan;83(1):115-9. doi: 10.1136/bjo.83.1.115.
BACKGROUND
Congenital hereditary endothelial dystrophy (CHED) is a corneal dystrophy characterised by diffuse bilateral corneal clouding resulting in impaired vision. It is inherited in either an autosomal dominant (AD) or autosomal recessive (AR) manner. The AD form of CHED has been mapped to the pericentromeric region of chromosome 20. Another endothelial dystrophy, posterior polymorphous dystrophy (PPM), has been linked to a larger but overlapping region on chromosome 20. A large, Irish, consanguineous family with AR CHED was investigated to determine if there was linkage to this region.
METHODS
The technique of linkage analysis with polymorphic microsatellite markers amplified by polymerase chain reaction (PCR) was used. In addition, a DNA pooling approach to homozygosity mapping was employed to demonstrate the efficiency of this method.
RESULTS
Conventional genetic analysis in addition to a pooled DNA strategy excludes linkage of AR CHED to the AD CHED and larger PPMD loci.
CONCLUSION
This demonstrates that AR CHED is genetically distinct from AD CHED and PPMD.
背景
先天性遗传性内皮营养不良（CHED）是一种角膜营养不良，其特征为双侧弥漫性角膜混浊，导致视力受损。它以常染色体显性（AD）或常染色体隐性（AR）方式遗传。AD型CHED已被定位到20号染色体的着丝粒周围区域。另一种内皮营养不良，即后极性多形性营养不良（PPM），已与20号染色体上一个更大但重叠的区域相关联。对一个患有AR型CHED的爱尔兰大家族进行了研究，以确定是否与该区域存在连锁关系。
方法
采用通过聚合酶链反应（PCR）扩增多态微卫星标记进行连锁分析的技术。此外，采用DNA池方法进行纯合性定位，以证明该方法的有效性。
结果
除了DNA池策略外，传统遗传分析排除了AR型CHED与AD型CHED以及更大的PPMD位点的连锁关系。
结论
这表明AR型CHED在遗传上与AD型CHED和PPMD不同。
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