MAPPING THE LOCUS OF ATROPHIA AREATA, A HELICOID PERIPAPILLARY CHORIORETINAL DEGENERATION WITH AUTOSOMAL-DOMINANT INHERITANCE, TO CHROMOSOME 11P15

被引：18

作者：

FOSSDAL, R

MAGNUSSON, L

WEBER, JL

JENSSON, O

机构：

[1] EYE CLIN,IS-600 AKUREYRI,ICELAND

[2] MARSHFIELD MED RES FDN,MARSHFIELD,WI 54449

来源：

HUMAN MOLECULAR GENETICS | 1995年 / 4卷 / 03期

关键词：

D O I：

10.1093/hmg/4.3.479

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Atrophia areata (AA) is an early onset autosomal dominant helicoid peripapillary chorioretinal degeneration, which was first demonstrated to be hereditary in an Icelandic family. It is characterized by bilateral wing-shaped atrophic areas of the retina, radiating from the optic disk. Primary complaints of affected individuals are due to refractive errors and scotomata associated with myopia which increases with age. A genome linkage search with 112 microsatellite DNA markers resulted in the highest probability of location for AA on chromosome 11. We genotyped 18 polymorphic markers on chromosome 11 and seven showed significant linkage to AA. The markers D11S1323 and D11S902 on 11p15 flank the region encompassing the gene for AA.

引用

页码：479 / 483

页数：5

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