Linkage to D3S47 (C17) in one large autosomal dominant retinitis pigmentosa family and exclusion in another: confirmation of genetic heterogeneity.
Linkage to D3S47 (C17) in one large autosomal dominant retinitis pigmentosa family and exclusion in another: confirmation of genetic heterogeneity.
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一个常染色体显性色素性视网膜炎家族中与 D3S47 (C17) 的关联以及另一个家族中的排除：遗传异质性的确认。
DOI：
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发表时间：
1990
影响因子：
9.8
通讯作者：
S. Bhattacharya
中科院分区：
文献类型：
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作者：
D. Lester;C. Inglehearn;R. Bashir;H. Ackford;L. Esakowitz;Marcelle Jay;A. Bird;A. Wright;Surinder S. Papiha;S. Bhattacharya
最近Dryja和他的同事在一部分常染色体显性视网膜色素变性（ADRP）患者中观察到视紫红质基因第23位密码子的突变。用视紫红质连接的探针C17（D3 S47）进行了连锁分析，在两个大的英国ADRP家庭，一个与弥漫型（D型）RP和其他区域型（R型）RP。在C17和我们的D型ADRP家族之间获得了显著正的lod评分（在重组分数[theta] = .0时lod评分最大值[Zmax] = +5.58），显示出完全同源性。然而，序列和寡核苷酸分析表明，在23 d密码子的点突变存在于受影响的个人在我们的完全遗传家系，表明另一个视紫红质突变可能是负责ADRP在这个家庭。然而，在C17和我们的R型家族之间获得了显着负的lod评分（θ = 0.045处Z小于-2），该家族显示不完全的等位基因。本实验室先前的研究结果也表明，C17与另一个英国R型ADRP大家族之间没有连锁关系。这证实了遗传异质性。某些类型的ADRP是由视紫红质基因座（3q 21 -24）或该区域中另一个紧密连锁的基因的不同突变引起的，而其他类型的ADRP是基因组中其他地方突变的结果。
Recently Dryja and his co-workers observed a mutation in the 23d codon of the rhodopsin gene in a proportion of autosomal dominant retinitis pigmentosa (ADRP) patients. Linkage analysis with a rhodopsin-linked probe C17 (D3S47) was carried out in two large British ADRP families, one with diffuse-type (D-type) RP and the other with regional-type (R-type) RP. Significantly positive lod scores (lod score maximum [Zmax] = +5.58 at recombination fraction [theta] = .0) were obtained between C17 and our D-type ADRP family showing complete penetrance. Sequence and oligonucleotide analysis has, however, shown that no point mutation at the 23d codon exists in affected individuals in our complete-penetrance pedigree, indicating that another rhodopsin mutation is probably responsible for ADRP in this family. Significantly negative lod scores (Z less than -2 at theta = .045) were, however, obtained between C17 and our R-type family which showed incomplete penetrance. Previous results presented by this laboratory also showed no linkage between C17 and another large British R-type ADRP family with incomplete penetrance. This confirms genetic heterogeneity. Some types of ADRP are being caused by different mutations in the rhodopsin locus (3q21-24) or another tightly linked gene in this region, while other types of ADRP are the result of mutations elsewhere in the genome.
人类 4 号染色体连锁分析：排除常染色体显性视网膜色素变性 (ADRP) 并检测新的连锁群。
DOI：
10.1159/000132758
发表时间：
1989
期刊：
Cytogenetics and cell genetics
影响因子：
--
作者：
Daiger,SP;Humphries,MM;Giesenschlag,N;Sharp,E;McWilliam,P;Farrer,J;Bradley,D;Kenna,P;McConnell,DJ;Sparkes,RS
通讯作者：
Sparkes,RS