GENETIC-LINKAGE OF CONE-ROD RETINAL DYSTROPHY TO CHROMOSOME 19Q AND EVIDENCE FOR SEGREGATION DISTORTION
GENETIC-LINKAGE OF CONE-ROD RETINAL DYSTROPHY TO CHROMOSOME 19Q AND EVIDENCE FOR SEGREGATION DISTORTION
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DOI：
10.1038/ng0294-210
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发表时间：
1994-02-01
期刊：
影响因子：
30.8
通讯作者：
BHATTACHARYA, S
中科院分区：
文献类型：
--
作者：
EVANS, K;FRYER, A;BHATTACHARYA, S
遗传性视网膜营养不良是发达国家儿童失明的最常见原因。视锥-视杆视网膜营养不良是这组疾病的严重实例。一个大的锥杆营养不良家系的分析表明，在家庭内的遗传影响减数分裂驱动（p=0.008），在人类遗传学中罕见的分离失真。两点连锁分析表明，与三个标记定位到染色体19 q显着连锁。多点分析得出D19 S47远端的最大棒评分为10.08（θ =0.05）。因此，视锥-视杆营养不良被分配到19q13.1-q13.2，并且鉴定了其他视网膜营养不良的新候选基因座。
Inherited retinal dystrophies are the most common cause of childhood blindness in the developed world. Cone-rod retinal dystrophies are severe examples of this group of disorders. Analysis of a large cone-rod dystrophy pedigree suggested that inheritance within the family was influenced by meiotic drive (p=0.008), a rare segregation distortion in human genetics. Two-point linkage analysis showed significant linkage with three markers mapping to chromosome 19q. Multipoint analysis gave a maximum rod score of 10.08 (theta=0.05) distal to D19S47. Cone-rod dystrophy is therefore assigned to 19q13.1-q13.2 and a new candidate locus for other retinal dystrophies is identified.