A new locus for autosomal dominant Stargardt-like disease maps to chromosome 4
A new locus for autosomal dominant Stargardt-like disease maps to chromosome 4
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DOI：
10.1086/302377
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发表时间：
1999-05-01
影响因子：
9.8
通讯作者：
Zhang, K
中科院分区：
文献类型：
--
作者：
Kniazeva, M;Chiang, MF;Zhang, K
Stargardt病（STGD）是最常见的遗传性黄斑营养不良，其特征在于中心视力下降、黄斑和下方视网膜色素上皮萎缩以及视网膜后极中频繁存在突出的颤动。STGD最常作为常染色体隐性遗传性状遗传，但已描述了许多家族，其中疾病的特征以常染色体显性方式传播。在染色体1p上发现了一个隐性基因座（STGD 1），在染色体13 q（STGD 2）和染色体6 q（STGD 3）上都发现了显性基因座。在这项研究中，我们描述了一个亲属与常染色体显性Stargardt样表型。全基因组搜索证明了与染色体4p上的基因座的连锁，对于标记D4S403，在重组分数为0.00时最大LOD scare为5.12。扩展的单倍型分析将疾病基因定位在基因座D4S1582和D4S2397之间类似于12 cM的间隔。因此，该家系建立了一个新的显性Stargardt样基因座，STGD 4。
Stargardt disease (STGD) is the most common hereditary macular dystrophy and is characterized by decreased central vision, atrophy of the macula and underlying retinal-pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina. STGD is most commonly inherited as an autosomal recessive trait, but many families have been described in which features of the disease are transmitted in an autosomal dominant manner. A recessive locus has been identified on chromosome 1p (STGD1), and dominant loci have been mapped to both chromosome 13q (STGD2) and chromosome 6q (STGD3). In this study we describe a kindred with an autosomal dominant Stargardt-like phenotype. A genomewide search demonstrated linkage to a locus on chromosome 4p, with a maximum LOD scare of 5.12 at a recombination fraction of .00, for marker D4S403. Analysis of extended haplotypes localized the disease gene to an similar to 12-cM interval between loci D4S1582 and D4S2397. Therefore, this kindred establishes a new dominant Stargardt-like locus, STGD4.