A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gamma-aminobutyric acid receptor clusters
A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gamma-aminobutyric acid receptor clusters
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DOI：
10.1086/301866
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发表时间：
1998-06-01
影响因子：
9.8
通讯作者：
Antiñolo, G
中科院分区：
文献类型：
--
作者：
Ruiz, A;Borrego, S;Antiñolo, G
视网膜色素变性（RP）是最常见的遗传性视网膜营养不良，具有广泛的等位基因和非等位基因遗传异质性。常染色体隐性RP （arRP）是世界范围内最常见的RP，已知至少有9个位点，占所有病例的10%-15%。γ -氨基丁酸（GABA）是中枢神经系统中主要的抑制性递质。不同的GABA受体在视网膜各层均有表达，GABA受体在人视网膜中介导的抑制可能与RF有关。我们选择了包含编码GABA受体不同亚基的基因的染色体区域，对受arRP影响的近交家族进行纯合子作图。我们在6号染色体上的标记D6S257和D6S1644之间发现了一个新的arRP位点。我们的数据表明，受典型arRP影响的西班牙家庭中有10%-20%可能与这个新的基因位点有联系。该区域包含GABA-C受体的GABRR1和GABRR2亚基，GABA-C受体是视网膜侧抑制的效应器。
Retinitis pigmentosa (RP) is the most common inherited retinal dystrophy, with extensive allelic and nonallelic genetic heterogeneity. autosomal recessive RP (arRP) is the most common form of RP worldwide, with at least nine loci known and accountable for similar to 10%-15% of all cases. Gamma-aminobutyric acid (GABA) is the major inhibitory transmitter in the CNS. Different GABA receptors are expressed in all retinal layers, and inhibition mediated by GABA receptors in the human retina could be related to RF. We have selected chromosomal regions containing genes that encode the different subunits of the GABA receptors, for homozygosity mapping in inbred families affected by arRP. We identify a new locus for arRP, on chromosome 6, between markers D6S257 and D6S1644. Our data suggest chat 10%-20% of Spanish families affected bg typical arRP could have linkage to this new locus. This region contains subunits GABRR1 and GABRR2 of the GABA-C receptor, which is the effector of lateral inhibition at the retina.