Olsson J E, Samanns C, Jimenez J, Pongratz J, Chand A, Watty A, Seuchter S A, Denton M, Gal A
Department of Pathology, Prince of Wales Hospital, Randwick, Sydney NSW, Australia.
Am J Med Genet. 1990 Apr;35(4):595-9. doi: 10.1002/ajmg.1320350434.
Linkage analysis has been performed on a large Australian family segregating for the autosomal dominant form of retinitis pigmentosa (ADRP). The majority of patients had no subjective symptoms of night blindness until their second decade and good visual acuity until late in life. The disease in this family has been classified as Type II ADRP according to the subdivisions provided by both Massof and Finkelstein and Fishman and colleagues. Linkage (Omax:0.08 at Zmax:4.78) is here demonstrated between the disease locus and D3S47 (a marker locus on the long arm of chromosome 3), which showed in an earlier study very close linkage without recombination to the disease locus in an Irish pedigree with a clinically more severe and early onset (Type I) ADRP.
对一个患有常染色体显性遗传性视网膜色素变性（ADRP）的大型澳大利亚家族进行了连锁分析。大多数患者在第二个十年之前没有夜盲的主观症状，直到晚年视力仍良好。根据马索夫和芬克尔斯坦以及菲什曼及其同事提供的细分标准，这个家族的疾病被归类为II型ADRP。在此证明疾病基因座与D3S47（位于3号染色体长臂上的一个标记基因座）之间存在连锁关系（最大lod值：0.08，在Z值最大为4.78时），在一项早期研究中，一个临床症状更严重且发病更早（I型）ADRP的爱尔兰家系中，该标记基因座与疾病基因座显示出非常紧密的连锁关系且无重组现象。
