在三个澳大利亚家庭中，未发现常染色体显性视网膜色素变性基因座与D3S47（C17）之间存在连锁关系。
No evidence of linkage between the locus for autosomal dominant retinitis pigmentosa and D3S47 (C17) in three Australian families.
作者信息
Jiménez J B, Samanns C, Watty A, Pongratz J, Olsson J E, Dickinson P, Buttery R, Gal A, Denton M J
机构信息
Department of Clinical Chemistry, Prince of Wales Hospital, Randwick, NSW, Australia.
出版信息
Hum Genet. 1991 Jan;86(3):265-7. doi: 10.1007/BF00202406.
A linkage analysis has been performed on three Australian families segregating for autosomal dominant retinitis pigmentosa (ADRP). No evidence of linkage has been found in any of the pedigrees studied between the locus D3S47 and the gene for ADRP. The D3S47 locus was found to show very close linkage with the ADRP gene in a large Irish pedigree. Our study together with a similar report on a British family indicates that there is genetic heterogeneity in this disease.
对三个患有常染色体显性遗传性视网膜色素变性（ADRP）的澳大利亚家族进行了连锁分析。在所研究的任何家系中，均未发现D3S47位点与ADRP基因之间存在连锁证据。在一个大型爱尔兰家系中，发现D3S47位点与ADRP基因表现出非常紧密的连锁。我们的研究以及一份关于一个英国家族的类似报告表明，这种疾病存在遗传异质性。
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